Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies


NewUpdate (5/12/15): The NHGRI-EBI GWAS Catalog has moved to the European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI) at  http://www.ebi.ac.uk/gwas. Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to gwas-info@ebi.ac.uk.

Why has the catalog moved to EMBL-EBI?
From September 2010 to the present, delivery and development of the Catalog has been a collaborative project between EMBL-EBI and NHGRI. In March 2015 the Catalog infrastructure moved to EMBL-EBI to enable delivery of an improved user interface, including ontology driven Catalog searching, and new curatorial infrastructure, supporting improved QC processes. Catalog content available through this original GWAS Catalog website was last updated on February 20th 2015 with all previous and updated content available at EMBL-EBI. New


 

Sound file Current uses of and future directions for the Genome-Wide Association Studies Catalog
On Thursday, July 18th, 2013, the Division of Genomic Medicine held a webinar to highlight current uses and explore  priorities and future directions for the GWAS catalog. See archived video and presentations.

The NHGRI GWAS Catalog, a curated resource of SNP-trait associationsPDF file
Click here to read our recent article from the Nucleic Acids Research Database Issue.

Potential etiologic and functional implications of genome-wide association loci for human diseases and traitsPDF file
Click here to read our Proceedings of the Academy of Sciences (PNAS) article on catalog methods and analysis.

 

Published Genome-Wide Associations
Credit: Darryl Leja and Teri Manolio, NHGRI; Tony Burdett, Dani Welter, and Helen Parkinson, EBI

 
An archived tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File
 

The genome-wide association study (GWAS) publications listed here include a primary GWAS analysis, defined as array-based genotyping and analysis of 100,000+ pre-QC SNPs selected to tag variation across the genome and without regard to gene content.  GWAS data from published studies which are incorporated into new GWAS analyses are eligible, provided they meet the other criteria.  Studies imputing sequencing data to genotyping arrays are eligible as long as the arrays include sufficient genome-wide coverage so that the post-imputation analysis meets the definition of a GWAS analysis, as described above. Customized gene-based arrays without a clearly described GWAS backbone, including those selected to replicate published GWAS findings (e.g., Metabochip, Immunochip, etc.) are not eligible.  Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).

Gene names and risk alleles are those reported by the authors in the original paper. Only one SNP within a gene or region of high linkage disequilibrium is recorded unless there was evidence of independent association.

Occasionally the term "pending" is used to denote one or more studies that we identified as an eligible GWAS, but for which SNP information has not yet been extracted; studies of CNVs are also noted as pending

How to cite the NHGRI GWAS Catalog:
Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. Accessed [date of access].

How to cite the NHGRI GWAS Catalog paper:
Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A, Flicek P, Manolio T, Hindorff L, and Parkinson H. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 2014, Vol. 42 (Database issue): D1001-D1006.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

To view the PDF(s) on this page you will need Adobe Reader. Download Adobe Reader

 

 

 





Notice: The updated Catalog content may now be searched at http://www.ebi.ac.uk/gwas/.

An archived, tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File

(Entries 1-50 of 2493)
Page 1 of 50 Next > Last >>


Date Added to Catalog (since 11/25/08) First Author/Date/ Journal/Study Disease/Trait Initial
Sample Description
Replication Sample Description Region Reported Gene(s) Mapped Gene(s) Strongest SNP-Risk Allele Context Risk Allele Frequency in Controls P-value
OR or beta-coefficient and [95% CI]
Platform
[SNPs passing QC]
CNV
10/22/14 Ji Y
August 01, 2014
Br J Clin Pharmacol
Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.
Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) 300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals NA View full set of 15 SNPs Illumina
[7,537,437] (Imputed)
N
22q13.2 CYP2D6*4, CYP2D6*10, CYP2D6*14 CYP2D6; LOC102723722 rs1065852-? missense;intron 0.215 2 x 10-16 (S-DDCT concentration) NR
10q23.33 CYP2C19,CYP2C9 CYP2C115P - CYP2C9 rs1074145-? 0.162 2 x 10-16 (S-DCT/S-CT ratio) NR
22q13.2 SEPT, CYP2D6, LOC100132273, LOC388906 SEPT3; WBP2NL; LOC102723706 rs1058172-? intron;nearGene-5;intron 0.155 2 x 10-16 (S-DDCT concentration) NR
22q13.2 SEPT, CYP2D6, LOC100132273, LOC388906 CYP2D6; LOC102723722 rs1058172-? missense;intron 0.155 8 x 10-16 (S-DDCT/S-DCT ratio) NR
22q13.2 CYP2D6*4, CYP2D6*10, CYP2D6*14 CYP2D6; LOC102723722 rs1065852-? missense;intron 0.215 8 x 10-16 (S-DDCT/S-DCT ratio) NR
10q23.33 CYP2C19,CYP2C9 CYP2C115P - CYP2C9 rs1074145-? 0.162 4 x 10-9 (S-CT concentration) NR
4q35.2 TRIML1 LOC102723950 rs71607999-? intron 0.165 7 x 10-9 (S-DCT/S-CT ratio, adjusted for CYP2C19) NR
4p15.1 AC007106.1 IGBP1P5 - MIR4275 rs11934750-? 0.160 1 x 10-7 (S-DCT/S-CT ratio, adjusted for CYP2C19) NR
17q25.3 CBX4 CBX8 - CBX4 rs9747992-? 0.086 2 x 10-7 (S-DCT concentration) NR
5p13.3 PDZD2 PDZD2 rs2059865-? intron 0.235 3 x 10-7 (S-DCT concentration) NR
02/03/15 Feng P
July 09, 2014
BMC Oral Health
Genome wide association scan for chronic periodontitis implicates novel locus.
Chronic periodontitis 63 European ancestry cases, 543 European ancestry controls, up to 32 African American cases, up to 158 African American controls, up to 4 cases, up to 66 controls 495 European ancestry cases, 981 European ancestry controls, 118 African ancestry cases, 225 African ancestry controls 19q13.32 C5AR1 PRR24 - C5AR1 rs7254232-? NR 3 x 10-6 NR Illumina
[473,514]
N
11q14.1 DLG2 DLG2 rs10501568-? intron NR 9 x 10-6 NR
02/04/15 Jun G
July 08, 2014
Ann Neurol
PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation.
Alzheimer's disease 61 cases and 2,530 controls from 1,232 families 1,819 cases and 1,969 controls from 2,265 families, 9,966 European ancestry cases, 8,935 European ancestry controls, 1,459 African American cases, 3,437 African American controls, 951 Japanese ancestry cases, 894 Japanese ancestry controls NS NS NS NS NS NS NS NS Affymetrix
[341,492]
N
02/05/15 Liao SY
July 08, 2014
Genet Epidemiol
Genome-wide association and network analysis of lung function in the Framingham Heart Study.
Forced expiratory volume in 1 second 2,698 European ancestry individuals NA 4q28.3 Intergenic LINC00499 - CCRN4L rs1450439-A 0.2373 4 x 10-6 67.9 [NR] unit increase Affymetrix
[300,895]
N
3p21.31 Intergenic TMEM158 - LARS2 rs33794-A 0.4367 6 x 10-6 55.9 [NR] unit decrease
02/04/15 Garner C
July 07, 2014
PLoS One
Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
Celiac disease 1,550 European ancestry cases, 3,084 European ancestry controls NA 4q27 KIAA1109, ADAD1, IL2, IL21 KIAA1109 rs13151961-? intron 3 x 10-11 1.54 [1.37-1.75] Illumina
[517,345]
N
6q25.3 TAGAP TAGAP - FNDC1 rs212402-? 8 x 10-9 1.31 [1.20-1.44]
6q15 BACH2 BACH2 rs2474619-? intron NR 2 x 10-8 1.28 [1.18-1.41]
3p21.31 CCR3, CCR2 CCR1 - CCR3 rs13096142-? 4 x 10-8 1.3 [1.18-1.43]
10p15.1 PFKFB3, PRKCQ DKFZp667F0711 - PRKCQ rs4558075-? NR 2 x 10-7 1.37 [1.22-1.54]
6q22.31 NKAIN2 NKAIN2 rs531930-? intron NR 5 x 10-7 1.3 [1.17?1.44]
17q12 HOXB9 ACACA; C17orf78 rs8081319-? intron;nearGene-5 NR 8 x 10-7 1.36 [1.20?1.54]
1q24.3 FASLG, TNFSF18, TNFSF4 AIMP1P2 - TNFSF18 rs2157453-? NR 8 x 10-7 1.29 [1.17?1.42]
02/04/15 Smolonska J
July 03, 2014
Eur Respir J
Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis.
Asthma or chronic obstructive pulmonary disease 920 European ancestry Asthma cases, 1,030 European ancestry Chronic obstructive pulmonary disease cases, 4,585 European ancestry controls 461 European ancestry Asthma cases, 118 European ancestry Chronic obstructive pulmonary disease cases, 656 European ancestry controls, 720 European, African American and Hispanic Asthma cases, 1,019 European, African American and Hispanic Chronic obstructive pulmonary disease cases, 19,173 European, African American and Hispanic controls, 1,106 Asthma cases, 1,806 Chronic obstructive pulmonary disease cases, 18,580 controls 13q14.2 GNG5P5 HTR2A-AS1 - GNG5P5 rs9534578-? 2 x 10-7 1.06 [NR] Illumina
[1,811,026]
N
2p24.3 DDX1, MYCN DDX1 - RNU5E-7P rs2544523-T 1 x 10-6 1.07 [NR]
5q23.1 COMMD10 COMMD10 rs10043228-T intron 4 x 10-6 1.32 [NR]
02/05/15 Ferrari R
July 01, 2014
Lancet Neurol
Frontotemporal dementia and its subtypes: a genome-wide association study.
Frontotemporal dementia 1,377 European ancestry behavioural variant cases, 308 European ancestry Semantic dementia cases, 269 European ancestry Progressive nonfluent aphasia cases, 200 European ancestry Frontotremporal dementia with motor neuron disease cases, up to 4,308 European ancestry controls 690 European ancestry behavioural variant cases, 190 European ancestry Semantic dementia cases, 221 European ancestry Progressive nonfluent aphasia cases, 94 European ancestry Frontotremporal dementia with motor neuron disease cases, 177 European ancestry Frontotemporal lobar degeneration cases, up to 5,094 European ancestry controls 6p21.32 HLA-DRA, HLA-DRB5, BTNL2 TRNAI25 rs9268856-C 0.748 6 x 10-9 (All Frontotemporal dementia) 1.24 [1.16-1.32] Illumina
[6,026,385] (imputed)
N
11q14.2[rs302668]; 11q14.2[rs302652] RAB38 NA rs302668-T 0.708 2 x 10-7 (Behavioural variant FTD) 1.23 [1.09-1.41]
01/21/15 Real LM
June 30, 2014
PLoS One
A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis.
Colorectal cancer 480 European ancestry cases, 801 European ancestry controls 1,305 European ancestry cases, 2,049 European ancestry controls NS NS NS NS NS NS NS NS Affymetrix
[178,930]
N
01/21/15 " Colorectal cancer (interaction) 480 European ancestry cases, 801 European ancestry controls 1,305 European ancestry cases, 2,049 European ancestry controls NS NS NS NS NS NS NS NS Affymetrix
[178,930]
N
01/21/15 Song F
June 30, 2014
Carcinogenesis
Identification of a melanoma susceptibility locus and somatic mutation in TET2.
Melanoma 494 European ancestry cases, 5,628 European ancestry controls 5,383 European ancestry cases, 13,033 European ancestry controls 16q24.3 MC1R CDK10 rs258322-A intron 2 x 10-9 1.5 [1.31-1.71] Illumina & Affymetrix
[1,579,307] (imputed)
N
11q14.3[rs1847134]; 11q14.3[rs1126809] TYR NA rs1847134-? 6 x 10-8 1.25 [1.15-1.35]
3q26.2 ACTRT3 SDHDP3 - TERC rs13097028-? 7 x 10-7 1.1236 [1.08-1.18]
4q24 TET2 TET2 rs4698934-? intron 8 x 10-7 1.18 [1.10-1.25]
6q12 EYS EYS rs1889497-? intron 2 x 10-6 1.1494 [1.09-1.22]
3p21.2 DOCK3 DOCK3 rs1031925-? intron 8 x 10-6 1.15 [1.08-1.22]
12/17/14 Fachal L
June 29, 2014
Nat Genet
A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.
Response to radiotherapy in prostate cancer (toxicity) Up to 652 European ancestry cases 849 European ancestry cases 2q24.2 TANC1, BTF3L4P2, GSTM3P2 TANC1 rs7582141-T intron 0.04 5 x 10-11 (late toxicity) .37 [NR] unit increase Affymetrix
[552,597]
N
01/21/15 Meng W
June 26, 2014
Eur J Pain
A genome-wide association study suggests an association of Chr8p21.3 (GFRA2) with diabetic neuropathic pain.
Neuropathic pain in type 2 diabetes 572 European ancestry cases, 2,491 European ancestry controls NA 8p21.3 GFRA2, DOK2 OR6R2P - DOK2 rs17428041-T 0.7092 2 x 10-7 1.49 [NR] Illumina & Affymetrix
[6,494,962] (imputed)
N
12p13.32 RP11-1038A11.3 KCNA5 - NTF3 rs11615866-T 0.12 1 x 10-6 2.26 [NR]
01/20/15 Kullo IJ
June 25, 2014
Front Genet
The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.
Peripheral artery disease 1,641 European ancestry cases, 1,604 European ancestry controls 740 European ancestry cases, 1,501 European ancestry controls 12q24.12 ATXN2, SH2B3 ATXN2 rs653178-C intron 0.469 6 x 10-7 1.22 [1.13-1.32] Illumina
[537,872]
N
4q21.3 MAPK10 MAPK10 rs11726269-G intron NR 2 x 10-6 1.39 [1.22-1.59]
22q11.23 LOC388882, IGLL1 PCAT14 - IGLL1 rs131408-C NR 6 x 10-6 1.211 [1.11-1.32]
01/20/15 Mullins N
June 25, 2014
Am J Med Genet B Neuropsychiatr Genet
Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.
Suicidal ideation in depression or bipolar disorder 237 European ancestry cases, 510 European ancestry controls NA 12q14.3 NR GRIP1 rs10748045-G intron 0.354 1 x 10-6 1.78 [1.41-2.25] Illumina
[494,742]
N
01/20/15 " Suicide attempts in depression or bipolar disorder 426 European ancestry cases, 2,844 European ancestry controls NA 7q36.1 RARRES2 RARRES2 rs17173608-G intron 0.058 2 x 10-7 1.93 [1.69-2.19] Illumina
[up to 503,016]
N
4p15.32 PROM1 PROM1 rs17387100-G intron 0.078 8 x 10-7 1.76 [1.54-1.99]
11q23.2 NCAM1 NCAM1 rs3781878-? intron 0.728 2 x 10-6 1.54 [1.2-2.08]
01/20/15 Chen P
June 24, 2014
Hum Mol Genet
CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
Corneal curvature 3,178 Chinese ancestry individuals, 2,138 Malay ancestry individuals, 2,124 Asian Indian ancestry individuals 2,473 Chinese ancestry individuals, 2,747 Japanese ancestry individuals 1p36.22 MTOR MTOR rs74225573-C intron 0.18 6 x 10-18 .16 [0.12-0.20] unit increase Illumina
[~7 Million] (Imputed)
N
10q11.22 RBP3 RBP3 rs11204213-T missense 0.04 1 x 10-13 .29 [0.21-0.37] unit increase
1p33 CMPK1 CMPK1 - FOXE3 rs17103186-C 0.82 3 x 10-12 .11 [0.071-0.149] unit increase
4q12 PDGFRA PDGFRA rs1800813-G nearGene-5 0.77 8 x 10-9 .1 [0.061-0.139] unit increase
01/21/15 Kuiper JJ
June 22, 2014
Hum Mol Genet
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
Birdshot chorioretinopathy 117 European ancestry cases, 693 European ancestry controls 30 European ancestry cases, 2,793 European ancestry controls NA HLA NA HLA-A*29:02-? 0.026 7 x 10-74 157.5 [91.6-272.6] Illumina
[9,932,851] (imputed)
N
5q15 ERAP1, ERAP2, LNPEP LNPEP rs7705093-T intron 0.442 2 x 10-9 2.2 [1.70-2.90]
14q32.31[rs150571175]; 14q32.31[rs7159505] TECPR2 NA rs150571175-A 0.017 2 x 10-7 4.6 [2.60-8.30]
12/17/14 Liao J
June 20, 2014
Hum Mol Genet
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
Age-related nuclear cataracts 2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals NA View full set of 15 SNPs Illumina
[4,736,131] (Imputed)
N
21q22.3 CRYAA CRYAA rs11911275-G nearGene-3 0.44 2 x 10-9 (Random effect) .08 [0.021-0.139] unit increase
3q25.31 KCNAB1 KCNAB1 rs7615568-G intron 0.09 1 x 10-8 (Random effect) .11 [0.051-0.169] unit increase
9p21.3 FOCAD FOCAD rs76495380-T intron NR 2 x 10-7 (Fixed effect) .14 [0.081-0.199] unit increase
2p14 Intergenic ETAA1 - C1D rs146109287-C NR 2 x 10-7 (Fixed effect) .1 [0.061-0.139] unit increase
12q24.11 MMAB MMAB rs59227481-G intron NR 6 x 10-7 (Fixed effect) .08 [0.041-0.119] unit increase
5q35.2 CPLX2 CPLX2 rs55914911-G intron NR 1 x 10-6 (Fixed effect) .23 [0.13-0.33] unit increase
13q34 COL4A1 COL4A1 rs1192201-G intron NR 2 x 10-6 (Fixed effect) .08 [0.041-0.119] unit decrease
20q12 PTPRT PTPRT rs3890324-C intron NR 2 x 10-6 (Fixed effect) .06 [0.04-0.08] unit decrease
6q24.2 LOC100507489 HIVEP2 - AIG1 rs75796365-C NR 3 x 10-6 (Fixed effect) .13 [0.071-0.189] unit decrease
11p14.3 Intergenic LUZP2 - RPL36AP40 rs12788764-C NR 5 x 10-6 (Fixed effect) .07 [0.05-0.09] unit decrease
01/21/15 Metrustry SJ
June 20, 2014
Twin Res Hum Genet
Variants close to NTRK2 gene are associated with birth weight in female twins.
Birth weight 4,593 European ancestry female twins 3,033 European ancestry female twins, 1,418 European ancestry females, 1,579 European ancestry males 9q21.33 NTRK2 LOC102724605 rs12340987-A nearGene-5 0.20 1 x 10-8 .13 [0.091-0.169] unit decrease Illumina
[up to 874,733]
N
12/18/14 Kemp JP
June 19, 2014
PLoS Genet
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
Bone mineral density (paediatric, lower limb) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children NA View full set of 11 SNPs Illumina
[~2.5 Million] (imputed)
N
7q31.31 WNT16, FAM3C, CPED1 WNT16 rs2908004-A missense 0.47 3 x 10-11 .1 [0.071-0.129] unit increase
14q32.12 RIN3 RIN3 rs754388-C intron 0.82 1 x 10-10 .13 [0.091-0.169] unit increase
7q31.31 WNT16, FAM3C, CPED1 WNT16 rs2908004-A missense NR 1 x 10-9 (EA) .1039 [0.07-0.138] unit increase
14q32.12 RIN3 RIN3 rs754388-C intron NR 2 x 10-9 (EA) .1351 [0.091-0.179] unit increase
9q34.11 FUBP3 FUBP3 rs7466269-A intron 0.65 2 x 10-8 .087 [0.058-0.116] unit increase
12p11.22 KLHDC5, PTHLH KLHL42 - PTHLH rs4420311-G 0.46 3 x 10-8 .086 [0.055-0.117] unit increase
1p36.12 WNT4 WNT4 rs3765350-A intron 0.78 3 x 10-8 .097 [0.062-0.132] unit increase
1p36.12 WNT4 WNT4 rs3765350-A intron NR 6 x 10-8 (EA) .1071 [0.068-0.146] unit increase
12p11.22 KLHDC5, PTHLH KLHL42 - PTHLH rs4420311-G NR 1 x 10-7 (EA) .0921 [0.058-0.126] unit increase
2q24.3 GALNT3 CSRNP3 - GALNT3 rs1346004-A 0.5 5 x 10-7 .08 unit decrease
12/18/14 " Bone mineral density (paediatric, skull) 7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children NA View full set of 19 SNPs Illumina
[~2.5 Million] (imputed)
N
7q31.31 WNT16, FAM3C, CPED1 CPED1 rs13223036-T intron 0.64 2 x 10-28 .169 [0.14-0.2] unit increase
7q31.31 WNT16, FAM3C, CPED1 CPED1 rs13223036-T intron NR 3 x 10-22 (EA) .1652 [0.13-0.2] unit increase
11p14.1 LIN7C, LGR4 RPL37AP7 rs10835187-C 0.47 2 x 10-17 .127 [0.098-0.156] unit increase
6q23.2 EYA4 RPL23AP46 - LINC00326 rs3012465-G 0.67 8 x 10-17 .127 [0.098-0.156] unit increase
11p14.1 LIN7C, LGR4 RPL37AP7 rs10835187-C NR 3 x 10-13 (EA) .1245 [0.091-0.158] unit increase
6q23.2 EYA4 RPL23AP46 - LINC00326 rs3012465-G NR 2 x 10-12 (EA) .1215 [0.088-0.155] unit increase
1p36.12 WNT4 WNT4 - MIR4418 rs3920498-G 0.8 2 x 10-12 .134 [0.097-0.171] unit increase
8q24.12 TNFRSF11B, COLEC10 COLEC10 rs2450083-T intron 0.47 2 x 10-11 .102 [0.073-0.131] unit increase
6q22.32 CENPW, RSPO3 MIR588 - VIMP1 rs2130604-T 0.24 3 x 10-11 .112 [0.079-0.145] unit increase
6q22.32 CENPW, RSPO3 MIR588 - VIMP1 rs2130604-T NR 4 x 10-11 (EA) .1291 [0.091-0.167] unit increase
12/18/14 " Bone mineral density (paediatric, total body less head) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children NA View full set of 15 SNPs Illumina
[~2.5 Million] (imputed)
N
7q31.31 WNT16, FAM3C, CPED1 FAM3C rs7776725-C intron 0.27 6 x 10-20 .159 [0.13-0.19] unit increase
7q31.31 WNT16, FAM3C, CPED1 FAM3C rs7776725-C intron NR 2 x 10-15 (EA) .1582 [0.12-0.2] unit increase
2q24.3 GALNT3 CSRNP3 - GALNT3 rs6726821-T 0.54 4 x 10-10 .091 [0.062-0.120] unit increase
1p36.12 WNT4 WNT4 rs3765350-A intron 0.78 7 x 10-10 .107 [0.074-0.140] unit increase
14q32.12 RIN3 RIN3 rs754388-C intron 0.82 3 x 10-9 .12 [0.081-0.159] unit increase
1p36.12 WNT4 WNT4 rs3765350-A intron NR 4 x 10-9 (EA) .1159 [0.077-0.155] unit increase
13q14.11 TNFSF11 TNFSF11 rs17536328-T intron 0.42 8 x 10-9 .086 [0.057-0.115] unit increase
9q34.11 FUBP3 FUBP3 rs7466269-A intron 0.65 3 x 10-8 .084 [0.055-0.113] unit increase
12p11.22 KLHDC5, PTHLH KLHL42 - PTHLH rs4420311-G 0.46 4 x 10-8 .085 [0.054-0.116] unit increase
14q32.12 RIN3 RIN3 rs754388-C intron NR 5 x 10-8 (EA) .1219 [0.078-0.166] unit increase
12/18/14 " Bone mineral density (paediatric, upper limb) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children NA View full set of 11 SNPs Illumina
[~2.5 Million] (imputed)
N
7q31.31 CPED1, WNT16, FAM3C CPED1 rs798943-G intron 0.61 1 x 10-37 .195 [0.17-0.22] unit increase
7q31.31 CPED1, WNT16, FAM3C CPED1 rs798943-G intron NR 3 x 10-32 (EA) .2016 [0.17-0.24] unit increase
6q22.32 CENPW, RSPO3 PRELID1P1 - RPS4XP9 rs1262476-G 0.77 3 x 10-9 .104 [0.069-0.139] unit increase
13q14.11 TNFSF11 FABP3P2 - TNFSF11 rs9525638-C 0.42 3 x 10-9 .089 [0.060-0.118] unit increase
1p36.12 WNT4 WNT4 rs2235529-C intron 0.85 1 x 10-8 .117 [0.076-0.158] unit increase
2q24.3 GALNT3 CSRNP3 - GALNT3 rs6726821-T 0.54 1 x 10-8 .083 [0.054-0.112] unit increase
13q14.11 TNFSF11 FABP3P2 - TNFSF11 rs9525638-C NR 2 x 10-8 (EA) .0949 [0.062-0.128] unit increase
6q22.32 CENPW, RSPO3 PRELID1P1 - RPS4XP9 rs1262476-G NR 4 x 10-8 (EA) .1045 [0.067-0.142] unit increase
1p36.12 WNT4 WNT4 rs2235529-C intron NR 3 x 10-7 (EA) .1173 [0.072-0.162] unit increase
13q14.11 TNFSF11 TNFSF11 rs2148072-G intron 0.63 2 x 10-6 (Conditional) .0723 [0.043-0.102] unit increase
01/15/15 Simino J
June 19, 2014
Am J Hum Genet
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
Blood pressure 55,796 European ancestry individuals 43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals View full set of 28 SNPs Illumina & Affymetrix
[~2.5 million] (Imputed)
N
4q21.21 PRDM8, FGF5 PRDM8 - FGF5 rs11099098-T 2 x 10-11 (EA, SBP, Age 50-59) .97 [0.7-1.24] mmHg increase
10q24.32 AS3MT AS3MT; C10orf32-ASMT rs12416687-T nearGene-5;intron 4 x 10-9 (EA, MAP, Age 50-59) .59 [0.39-0.79] mmHg decrease
3q26.1 MIR1263 RNU7-82P - MIR1263 rs16833934-G 0.26 1 x 10-8 (EA, DBP, Age 20-29) 1.63 [1.06-2.2] mmHg decrease
12q21.33 POC1B,ATP2B1 POC1B-GALNT4 - ATP2B1 rs4842666-T 4 x 10-8 (EA, MAP, Age 40-49) .71 [0.46-0.96] mmHg increase
4q21.21 PRDM8, FGF5 PRDM8 - FGF5 rs11099098-T 9 x 10-8 (EA, PP, Age 50-59) .52 [0.32-0.72] mmHg increase
12q21.33 POC1B,ATP2B1 POC1B-GALNT4 - ATP2B1 rs4842666-T 2 x 10-7 (EA, SBP, Age 40-49) .91 [0.58-1.24] mmHg increase
17p13.3 NXN NXN rs747687-G intron 0.86 2 x 10-7 (EA, DBP, Age 60-69) 1.37 [0.86-1.88] mmHg increase
2p25.2 LINC01249 LINC01249 - LINC01248 rs825937-C 0.83 2 x 10-7 (EA, PP, Age 40-49) .83 [0.52-1.14] mmHg increase
5p13.3 NPR3 NPR3 rs1421811-G intron 2 x 10-7 (EA, SBP, Age 50-59) .69 [0.44-0.94] mmHg decrease
10q24.2 SFRP5,GOLGA7B SFRP5 - LINC00866 rs11816631-G 0.06 3 x 10-7 (EA, PP, Age 40-49) 1.99 [1.23-2.75] mmHg increase
01/15/15 " Blood pressure (age interaction) 55,796 European ancestry individuals 43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals 11q13.1 EHBP1L1 EHBP1L1 rs4601790-G intron 0.27 3 x 10-7 (EA, MAP) .022 [0.014-0.03] mmHg decrease per 1 year increase in age Illumina & Affymetrix
[~2.5 million] (Imputed)
N
11q13.1 EHBP1L1 EHBP1L1 rs4601790-G intron 0.27 6 x 10-7 (EA, DBP) .0197 [0.012-0.028] mmHg decrease per 1 year increase in age
18p11.22 RAB31 RAB31 rs7233332-G intron 0.61 6 x 10-6 (EA, PP) .0232 [0.013-0.033] mmHg increase per 1 year increase in age
01/13/15 Chang SW
June 18, 2014
PLoS One
A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.
Chronic hepatitis B infection 321 Chinese ancestry cases, 304 Chinese ancestry controls 1,302 Chinese ancestry cases, 761 Chinese ancestry controls 6p21.32 HLA-DQB2 HLA-DQB2 rs7453920-G intron 0.051 7 x 10-15 2.31 [1.87-2.85] Illumina
[456,262]
N
6p21.32 HLA-DPB1 HLA-DPB1 rs9277535-G UTR-3 0.251 5 x 10-14 1.59 [1.41-1.79]
6p21.32[rs9276370]; 6p21.32[rs7756516] HLA,-DQA2, HLA-DQB2, HLA-DPB1, HLA-DPA3 NA 5-SNP haplotype 0.4305 1 x 10-12 (TTGGT) 1.49 [1.33-1.66]
6p21.32 HLA-DQA2 HLA-DQA2 rs9276370-T nearGene-5 0.076 2 x 10-12 1.95 [1.62-2.34]
6p21.32 HLA-DPA3 TRNAI25 rs9366816-C 0.414 3 x 10-10 1.43 [1.28-1.60]
02/20/15 Fransen E
June 18, 2014
Eur J Hum Genet
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
Age-related hearing impairment 1,489 European ancestry individuals NA View full set of 30 SNPs Illumina
[4,167,292] (Imputed)
N
18q21.32 CCBE1 CCBE1 rs12955474-? intron 4 x 10-7 (PC3) .099 [NR] unit decrease
12q13.13 GRASP,ACVR1B ACVR1B rs2252518-? intron 5 x 10-7 (PC2) .0716 [NR] unit increase
5q12.3 Intergenic HTR1A - RNF180 rs1494630-? 1 x 10-6 (PC2) .1452 [NR] unit decrease
7q11.22 WBSCR17 AUTS2 - WBSCR17 rs62459614-? 2 x 10-6 (PC3) .1895 [NR] unit increase
22q12.2 DEPDC5 PRR14L rs62238885-? intron 2 x 10-6 (PC2) .1541 [NR] unit increase
6p22.1 HLA-A29.1, HCG9 HCG9 rs6904029-? ncRNA 3 x 10-6 (PC3) .0464 [NR] unit decrease
22q12.2 SFI1, PISD SFI1 rs16989760-? intron 3 x 10-6 (PC2) .1297 [NR] unit increase
7q35 CNTNAP2 CNTNAP2 rs17170356-? intron 4 x 10-6 (PC3) .1547 [NR] unit increase
6q14.3 Intergenic NDUFA5P9 - HTR1E rs9351104-? 4 x 10-6 (PC2) .0565 [NR] unit increase
2q36.2 Intergenic MIR4439 - NYAP2 rs4674973-? 4 x 10-6 (PC3) .0427 [NR] unit increase
02/20/15 " Age-related hearing impairment (interaction) 1,489 European ancestry individuals NA View full set of 49 SNPs Illumina
[629,437] (Imputed)
N
1p35.2 NR MIR4254 - SPOCD1 rs877674-? x rs6952893-? 4 x 10-11 NR
2q14.2 NR LINC01101 - GLI2 rs1869026-? x rs9395969-? 4 x 10-10 NR
1p36.12 NR FAM43B - CDA rs10916814-? x rs690140-? 5 x 10-10 NR
9q32 NR SNX30 rs787274-? x rs11250795-? intron 7 x 10-10 NR
6q23.1 NR TMEM200A rs3813359-? x rs9924528-? cds-synon 7 x 10-10 NR
3q28 NR OSTN - UTS2B rs7637404-? x rs12457810-? 1 x 10-9 NR
10q21.1 NR PRKG1 rs1903989-? x rs4767920-? intron 1 x 10-9 NR
4q34.3 NR RNA5SP173 - LINC00290 rs2309322-? x rs1334782-? 1 x 10-9 NR
3p26.1 NR SUMF1 rs4685724-? x rs9682918-? intron 1 x 10-9 NR
6p24.2 NR SYCP2L rs9366664-? x rs1600646-? intron 1 x 10-9 NR
01/14/15 Liang Y
June 18, 2014
PLoS One
Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.
Elevated serum carcinoembryonic antigen levels 1,999 Chinese ancestry individuals NA View full set of 13 SNPs Illumina
[709,211] (Imputed)
N
19q13.33 FUT2 FUT2 rs1047781-? missense 1 x 10-56 NR
9q34.2 ABO ABO rs8176741-? missense 2 x 10-24 NR
19p13.3 FUT6 FUT6 rs3760775-? nearGene-5 8 x 10-19 NR
9q34.2 Intergenic ABO - SURF6 rs7030248-? 4 x 10-15 NR
19q13.33 DBP DBP rs12608544-? intron 2 x 10-12 NR
19q13.33 CA11 CA11; SEC1P rs11880333-? intron;intron 5 x 10-12 NR
19q13.33 RPL18 RPL18; FAM83E rs2292342-? nearGene-3;nearGene-5 7 x 10-12 NR
19q13.33 SULT2B1 SULT2B1 rs3786749-? intron 1 x 10-10 NR
19q13.33 FUT1 FUT1 rs2071699-? missense 3 x 10-10 NR
19q13.33 Intergenic SEC1P rs8111500-? intron NR 4 x 10-9 NR
12/16/14 Nakano M
June 18, 2014
Sci Rep
Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.
Exfoliation glaucoma or exfoliation syndrome 201 Japanese ancestry cases, 697 Japanese ancestry controls 121 Japanese ancestry cases, 263 Japanese ancestry controls 15q24.1 LOXL1 LOXL1 rs893818-T intron 0.535 3 x 10-84 20.94 [13.98-31.39] Affymetrix
[652,792]
N
15q24.1 TBC1D21 TBC1D21 rs16958445-G missense 0.834 2 x 10-16 5.18 [3.37-7.94]
12/18/14 Terao C
June 18, 2014
Arthritis Care Res (Hoboken)
Effects of smoking and shared epitope on the production of anti-citrullinated peptide antibody in a Japanese adult population.
Anti-citrullinated peptide antibody 3,170 Japanese ancestry individuals NA NS NS NS NS NS NS NS NS Illumina
[394,239]
N
12/18/14 " Rheumatoid factor 3,170 Japanese ancestry individuals NA NS NS NS NS NS NS NS NS Illumina
[394,239]
N
12/16/14 Eny KM
June 17, 2014
Diabetologia
GWAS identifies an NAT2 acetylator status tag single nucleotide polymorphism to be a major locus for skin fluorescence.
Skin fluorescence 1,082 European ancestry individuals with type 1 diabetes, 8,721 European ancestry individuals 202 European ancestry individuals with type 1 diabetes, 318 European ancestry individuals with type 2 diabetes, 515 European ancestry individuals NS NS NS NS NS NS NS NS Illumina
[up to 1,609,583] (Imputed)
N
12/13/14 Loth DW
June 15, 2014
Nat Genet
Genome-wide association analysis identifies six new loci associated with forced vital capacity.
Forced vital capacity 52,253 European ancestry indiviudals 32,917 European ancestry individuals, 6,070 African American individuals, 849 Hispanic individuals, 8,637 East Asian ancestry individuals 6p24.3 BMP6 BMP6 rs6923462-T intron 0.843 6 x 10-13 (EA) 30.883 [22.48-39.29] ml increase Illumina and Affymetrix
[2,762,059] (imputed)
N
2p16.1 EFEMP1 EFEMP1 rs1430193-T intron 0.37 2 x 10-12 (EA) 21.125 [15.25-27.00] ml decrease
11p11.2 PRDM11 PRDM11 rs2863171-C UTR-3 0.158 9 x 10-10 (EA) 23.924 [16.27-31.58] ml increase
17q24.3 KCNJ2 CALM2P1 - CASC17 rs6501431-T 0.798 3 x 10-9 (EA) 23.053 [15.44-30.67] ml increase
16q23.1 WWOX WWOX rs1079572-G intron 0.417 1 x 10-8 (EA) 16.258 [10.70-21.82] ml increase
11p11.2 HSD17B12 LOC101928704 rs4237643-T intron 0.311 4 x 10-8 (EA) 16.666 [10.74-22.59] ml decrease
2p16.1 EFEMP1 EFEMP1 - MIR217 rs62164511-A 0.902 2 x 10-7 (AA) 84.664 [52.98-116.35] ml decrease
12/14/14 Navarini AA
June 13, 2014
Nat Commun
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
Acne (severe) 1,893 European ancestry cases, 5,132 European ancestry controls 2,063 European ancestry cases, 1,970 European ancestry controls View full set of 14 SNPs Illumina
[7.3 Million] (imputed)
N
11q13.1 AP5B1, AX746604, AX747517, BANF1, BC010924, C11orf68, CATSPER1, CCDC85B, CDC42EP2, CFL1, CST6, CTSW, DPF2, DQ587981, DRAP1, EFEMP2, EHBP1L1, EIF1AD, FAM89B, FIBP, FOSL1, FRMD8, GAL3ST3, KAT5, KCNK7, LTBP3, MALAT1, MAP3K11, MascRNA_menRNA, MIR4489, MIR4690, MIR548AR, MUS81, NEAT1, OVOL1, PACS1, PCNXL3, POLA2, RELA, RNASEH2C, SART1, SCYL1, SF3B2, SIPA1, SLC22A20, SLC25A45, SNX32, SSSCA1, SSSCA1-AS1, TIGD3, TSGA10IP, U7 RNASEH2C - KRT8P26 rs478304-T 0.5518 3 x 10-11 1.2 [1.11-1.29]
5q11.2 AK097288, FST, ITGA1, ITGA2, LOC257396, MOCS2, NDUFS4, PELO RPL13AP13 - RPS19P4 rs38055-A 0.3197 5 x 10-9 1.18 [1.09-1.27]
1q41 LOC643723, LOC728463, RRP15, TGFB2 TGFB2 - LYPLAL1 rs1159268-A 0.3513 4 x 10-8 1.17 [1.08-1.26]
3p24.3 SGOL1 RNY4P22 - VENTXP7 rs75430906-A 0.001 1 x 10-7 3.46 [1.51-7.96]
22q11.23 ADORA2A, ADORA2A-AS1, BCRP3, CABIN1, DKFZp434K191, DQ570150, DQ571461, DQ576853, EU036692, FAM211B, GGT1, GGT5, GSTT1, GSTTP2, GUCD1, LOC391322, PIWIL3, POM121L10P, POM121L9P, SGSM1, SNRPD3, SPECC1L, SUSD2, TMEM211, TOP1P2, UNQ2565, UPB1 ADORA2A-AS1 rs17651189-C intron 0.0507 6 x 10-7 1.44 [1.24-1.68]
8p23.1 BC017578, ERI1, LOC157273, MFHAS1, MIR4660, MIR597, PPP1R3B, TNKS, U6 PPP1R3B - TNKS rs330071-G 0.6458 9 x 10-7 1.23 [1.14-1.33]
3p24.2 LINC00691, NKIRAS1, NR1D2, RPL15, THRB, UBE2E1, UBE2E2 UBE2E1 rs28405582-C intron 0.0002 1 x 10-6 11.67 [2.53-53.75]
6p21.2 AK096023, AY927499, C6orf89, CCDC167, CPNE5, FGD2, FTSJD2, MDGA1, MIR4462, MTCH1, PI16, PIM1, PPIL1, RNF8, TBC1D22B, TMEM217, TRNA_Gln, ZFAND3 TBC1D22B rs149709-C intron 0.2018 2 x 10-6 1.19 [1.08-1.30]
2p16.1 AL833181, BCL11A, JB153659, MIR4432, Mir_562, PAPOLG RNA5SP94 - MIR4432 rs4671386-C 0.4251 2 x 10-6 1.19 [1.11-1.3]
3p21.31 BC101287, CDCP1, CLEC3B, EXOSC7, KIF15, LARS2, LARS2-AS1, LIMD1, LIMD1-AS1, LZTFL1, MIR564, Mir_720, SACM1L, SLC6A20, TGM4, TMEM158, TMEM42, TRNA_Arg, ZDHHC3 TMEM158 - LARS2 rs146692665-T 0.0053 3 x 10-6 2.17 [1.45-3.24]
01/20/15 Chung SA
June 12, 2014
J Am Soc Nephrol
Lupus nephritis susceptibility loci in women with systemic lupus erythematosus.
Lupus nephritis in systemic lupus erythematosus 588 European ancestry cases, 1,412 European ancestry controls NA View full set of 17 SNPs Illumina & Affymetrix
[1,621,689] (imputed)
N
6p21.32 Intergenic TRNAI25 rs2647012-? NR 3 x 10-7 (Additive) 1.52 [1.3-1.75]
14q22.1 NIN, SAV1, SPG3A, MAP4K5 NIN rs8012283-G intron 3 x 10-7 (Additive) 1.64 [1.35-1.98]
16p12.1 SLC5A11 SLC5A11 rs274068-C intron NR 5 x 10-7 (Recessive) 2.85 [1.93-4.22]
4q12 PDGFRA, GSX2 GSX2 - RPL22P13 rs1364989-T NR 5 x 10-7 (Recessive) 3.41 [2.10-5.54]
6p22.3 Intergenic UQCRFS1P3 - ID4 rs7773456-? NR 7 x 10-7 (Dominant) 1.7544 [1.43-2.17]
8q24.12 Intergenic SNTB1 - RPL35AP19 rs7834765-T NR 1 x 10-6 (Recessive) 3.15 [1.97-5.03]
9p21.1 Intergenic PDK1P1 - ME2P1 rs601162-A NR 1 x 10-6 (Recessive) 3.11 [1.99-4.88]
1p34.2 HIVEP3 HIVEP3 rs752010-? intron NR 2 x 10-6 (Dominant) 1.7544 [1.41-2.22]
4q33 LOC100506122 HSP90AA6P - MIR6082 rs967616-? NR 2 x 10-6 (Additive) 1.45 [1.23-1.69]
6p21.32 C6orf10, NOTCh4 C6orf10 rs9267972-A intron NR 2 x 10-6 (Dominant) 1.85 [1.46,2.33]
02/06/15 Cozen W
June 12, 2014
Nat Commun
A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.
Hodgkin's lymphoma 1,816 European ancestry cases, 7,877 European ancestry controls 1,281 European ancestry cases, 3,218 European ancestry controls 6p21.32 HLA class II, HLA class I TRNAI25 rs6903608-C 0.30 7 x 10-31 1.64 [1.51?1.78] Illumina and Affymetrix
[1,004,829] (imputed)
N
5q31.1 IL13 IL13 - IL4 rs2069757-A 0.07 2 x 10-11 1.59 [1.39?1.82]
19p13.3 TCF3 TCF3 rs1860661-? intron NR 4 x 10-10 1.23 [1.16-1.32]
8q24.21 Intergenic MIR1208 - LINC01263 rs2019960-C 0.22 7 x 10-8 1.3 [1.18?1.43]
3q23 CLSTN2 CLSTN2 rs6439924-? intron 0.16 8 x 10-7 1.23 [1.13-1.33]
2p16.1 REL PAPOLG - LINC01185 rs13034020-G 0.16 3 x 10-6 1.28 [1.16?1.43]
10p14 GATA3 GATA3 rs444929-C intron 0.21 3 x 10-6 1.26 [1.15?1.39]
12/11/14 Hirokawa M
June 11, 2014
Eur J Hum Genet
A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
Myocardial infarction 1,666 Japanese ancestry cases, 3,198 Japanese ancestry controls 11,412 Japanese ancestry cases, 28,397 Japanese ancestry controls 12q24.12[rs3782886]; 12q24.12[rs671] ALDH2 NA rs3782886-A 0.26 1 x 10-14 1.46 [1.33-1.60] Illumina
[455,781]
N
3p24.3 PLCL2 PLCL2 rs4618210-G intron 0.44 3 x 10-9 1.1 [1.06-1.14]
19p13.3 AP3D1,DOT1L,SF3A2 AP3D1 - DOT1L rs3803915-C 0.19 4 x 10-9 1.12 [1.09-1.16]
9p21.3[rs4977574]; 9p21.3[rs1333049] Intergenic NA rs4977574-C 0.46 8 x 10-6 1.22 [1.12-1.33]
02/06/15 Kapoor M
June 11, 2014
Drug Alcohol Depend
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
Alcohol dependence (age at onset) 685 European ancestry cases and 1,103 European ancestry controls from 118 families NR View full set of 28 SNPs Illumina
[4,058,415] (imputed)
N
3q26.1 Intergenic MIR1263 - SI rs2168784-T 0.11 5 x 10-9 1.46 [1.34-1.58]
5q11.2 ARL15 ARL15 rs35951-G intron 0.14 1 x 10-8 1.43 [1.31-1.55]
12q23.2 UTP20 UTP20 rs57083693-C intron 0.22 4 x 10-8 1.35 [1.23-1.47]
1p36.22 NR PEX14 - CASZ1 rs61776290-T 0.11 2 x 10-7 1.48 [1.32-1.64]
2q21.1 NR ISCA1P6 - RPL22P7 rs1660895-A 0.47 7 x 10-7 1.3 [1.20-1.40]
2q37.3 NR ACKR3 - COPS8 rs896543-G 0.81 1 x 10-6 1.54 [1.36-1.72]
9p21.1 NR LINGO2 rs12348435-C intron 0.04 2 x 10-6 1.59 [1.39-1.79]
1p32.2 NR DAB1 rs35738462-T intron 0.57 2 x 10-6 1.32 [1.20-1.44]
13q21.1 NR RPL31P53 - PCDH17 rs11840092-C 0.16 2 x 10-6 1.37 [1.23-1.51]
9p22.2 NR PUS7P1 - ADAMTSL1 rs10810935-A 0.73 2 x 10-6 1.35 [1.23-1.47]
12/11/14 Terao C
June 11, 2014
J Med Genet
A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population.
Prostate-specific antigen levels 1,086 Japanese ancestry males 1,302 Japanese ancestry males 19q13.33 KLK3 KLK3 rs1058205-? UTR-3 NR 8 x 10-21 .085 [0.067-0.103] unit increase Illumina
[303,283]
N
1q32.1 SLC45A3 SLC45A3 rs16856139-? intron NR 2 x 10-11 .084 [0.059-0.109] unit increase
02/19/15 Versmissen J
June 11, 2014
Eur J Hum Genet
Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach.
Coronary heart disease in familial hypercholesterolemia 249 European ancestry cases, 217 European ancestry controls 744 European ancestry cases, 1,691 European ancestry controls NS NS NS NS NS NS NS NS Illumina
[535,179]
N
12/11/14 Walsh KM
June 08, 2014
Nat Genet
Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
Glioma (high-grade) 1,013 European ancestry cases, 6,595 European ancestry controls 631 European ancestry cases, 1,141 European ancestry controls 20q13.33 RTEL1 RTEL1; RTEL1-TNFRSF6B rs6010620-G intron;intron 0.76 5 x 10-19 1.56 [1.42-1.72] Illumina & Affymetrix
[2,362,330] Imputed
N
5p15.33 TERT TERT rs2736100-C intron 0.51 1 x 10-15 1.39 [1.28-1.50]
3q26.2 TERC LRRC31 rs1920116-G intron 0.72 8 x 10-9 1.3 [1.19-1.42]
12/10/14 Kolek MJ
June 06, 2014
Am J Cardiol
A genome-wide association study to identify genomic modulators of rate control therapy in patients with atrial fibrillation.
Response to rate control therapy in atrial fibrillation 95 non-responders, 190 responders 130 non-responders, 157 responders NS NS NS NS NS NS NS NS Illumina
[6.1M] (imputed)
N
12/10/14 Cook-Sather SD
June 05, 2014
Pain
TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population.
Morphine dose requirement in tonsillectomy and adenoidectomy surgery 277 European ancestry children, 241 African American children 75 European ancestry children, 70 African American children 12q24.23 TAOK3, VSIG10, PEBP1, SUDS3 TAOK3 rs795484-A intron 0.34 3 x 10-7 (EA) 16.1 [10.0-21.1] unit increase Illumina
[509,904]
N
12/10/14 Leu HB
June 03, 2014
PLoS One
A novel SNP associated with nighttime pulse pressure in young-onset hypertension patients could be a genetic prognostic factor for cardiovascular events in a general cohort in Taiwan.
Pulse pressure in young-onset hypertension 382 individuals 559 individuals 2p14 FLJ16124, TGFA RPS15AP15 - KRT18P33 rs897876-T 0.406 2 x 10-7 (Nighttime PP) 1.036 [0.45-1.62] unit increase Illumina
[560,186]
N
01/30/15 Ko A
June 02, 2014
Nat Commun
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
Cholesterol, total 3,701 Mexican ancestry individuals 5,114 Mexican ancestry individuals, 903 Mexican ancestry individuals from 73 dyslipidemic families 16q13 CETP CETP rs118146573-A intron NR 4 x 10-10 .2 [NR] unit decrease Illumina
[1,661,241] (imputed)
N
1p13.3 CELSR2 CELSR2 - PSRC1 rs3902354-A NR 1 x 10-8 .15 [NR] unit increase
01/30/15 " HDL cholesterol 3,701 Mexican ancestry individuals 5,114 Mexican ancestry individuals, 903 Mexican ancestry individuals from 73 dyslipidemic families 16q13 HERPUD1, CETP CETP rs5880-C missense NR 2 x 10-16 .29 [NR] unit decrease Illumina
[1,661,241] (imputed)
N
11q23.3 SIK3 SIK3 rs11216230-A intron NR 3 x 10-10 .22 [NR] unit increase
01/30/15 " Triglycerides 1,678 Mexican ancestry high triglyceride cases, 1,645 Mexican ancestry low triglyceride controls 2,129 Mexican ancestry high triglyceride cases, 2,985 Mexican ancestry low triglyceride controls, 903 Mexican ancestry individuals from 73 dyslipidemic families 11q23.3 BUD13, ZNF259 ZPR1 rs964184-G intron NR 6 x 10-33 1.89 [1.69-2.08] Illumina
[1,661,241] (imputed)
N
8p23.3 LOC286083, DLGAP2 DLGAP2 rs28680850-A intron NR 7 x 10-9 1.26 [1.15?1.39]
17q25.3 DNAH17 DNAH17 rs72925845-? intron NR 7 x 10-9 1.64 [1.3-2.08]
6q13 BAI3 LMBRD1 BAI3 - LMBRD1 rs78536982-T NR 7 x 10-9 1.38 [1.18?1.61]
6q27 CCR6 CCR6 rs62436827-G intron NR 7 x 10-9 1.49 [1.24?1.78]
8q24.13 TRIB1, LINC00861 TRIB1 - LINC00861 rs4360309-T NR 7 x 10-9 1.35 [1.19?1.53]
8p21.3 LPL, SLC18A1 LPL - RPL30P9 rs79236614-? NR 7 x 10-9 1.89 [1.49-2.38]
11q23.3 SIK3 SIK3 rs139961185-A intron NR 7 x 10-9 1.44 [1.27?1.63]
12/10/14 Drago A
June 01, 2014
Pharmacogenet Genomics
Genome-wide association study supports the role of the immunological system and of the neurodevelopmental processes in response to haloperidol treatment.
Response to haloperidol in psychosis 96 European ancestry cases NA 10q21.2 ARID5B, RTKN2 ARID5B - RTKN2 rs7912580-A 0.057 1 x 10-6 (Total PANSS scores) NR Illumina
[1,080,870] (Imputed)
N
15q15.1 EIF2AK4 EIF2AK4 rs2412459-C intron 0.218 9 x 10-6 (Total PANSS scores) NR
01/21/15 Wang Y
June 01, 2014
Nat Genet
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
Lung cancer 3,442 European ancestry adenocarcinoma cases, 3,275 European ancestry squamous cell carcinoma cases, 4,631 cases, up to 15,861 controls 3,589 European ancestry adenocarcinoma cases, 3,202 European ancestry squamous cell carcinoma cases, 3,455 cases, up to 38,295 controls 13q13.1[rs11571833]; 13q13.1[rs56084662] BRCA2, FRY NA rs11571833-T 0.0105 5 x 10-20 (Squamous cell carcinoma) 2.47 [2.03-3.00] Illumina
[8.9 million] (Imputed)
N
13q13.1[rs11571833]; 13q13.1[rs56084662] BRCA2, FRY NA rs11571833-T 0.011 2 x 10-19 (All lung cancer) 1.83 [1.61-2.09]
22q12.1 CHEK2 CHEK2 rs17879961-A missense 0.9975 1 x 10-13 (Squamous cell carcinoma) 2.63 [2.04-3.33]
22q12.1 CHEK2 CHEK2 rs17879961-A missense 0.9975 3 x 10-11 (All lung cancer) 1.67 [1.43-1.92]
3q28 TP63 TP63 rs13314271-T intron 0.49 7 x 10-10 (Adenocarcinoma) 1.13 [1.09-1.18]
(Entries 1-50 of 2493)
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Catalog Data Last Updated: February 20, 2015
Web Page Text Last Updated: September 16, 2015