rs2107595

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (28)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele A

OR 0.45

p 6.0e-82

N 1,028,980

Large GWAS

multi-ancestry

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)

Allele A

OR 0.51

p 5.0e-54

N 459,777

Large GWAS

multi-ancestry

Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)

Allele A

OR 0.04

p 1.0e-35

N 349,328

Large GWAS

multi-ancestry

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)

Allele A

OR 0.43

p 1.0e-37

N 321,262

Large GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.03

p 3.0e-13

N 145,445

Large GWAS

East Asian

Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)

Allele A

OR 0.42

p 7.0e-21

N 130,777

Large GWAS

multi-ancestry

Kato N et al. “Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.” Nature Genetics 47(11):1282-1293 (2015)

Allele A

OR 0.31

p 4.0e-11

N 99,994

Large GWAS

multi-ancestry

occlusion precerebral artery

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.19

p 2.0e-57

N 604,009

Major Consortium StudyLarge GWAS

multi-ancestry

Moyamoya disease

Duan L et al. “Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.” Stroke 49(1):11-18 (2018)

Allele A

OR 1.64

p 1.0e-29

N 2,786

Large GWAS

East Asian

descending aorta diameter

Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)

Allele G

OR 0.08

p 5.0e-28

N 39,893

Large GWAS

European, NR

Pirruccello JP et al. “Deep learning enables genetic analysis of the human thoracic aorta.” Nature Genetics 54(1):40-51 (2022)

Allele G

OR 0.09

p 1.0e-27

N 34,532

Large GWAS

European

coronary artery disease

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)

Allele A

OR 0.08

p 1.0e-24

N 547,261

Large GWAS

Aragam KG et al. “Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.” Nature Genetics 54(12):1803-1815 (2022)

Allele A

OR 1.07

p 4.0e-24

N 1,165,690

Large GWAS

European, NR

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)

Allele A

OR 0.03

p 5.0e-12

N 640,258

Large GWAS

European, East Asian

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.06

p 3.0e-22

N 417,274

Major Consortium StudyLarge GWAS

European

Zhou W et al. “Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.” Nature Genetics 50(9):1335-1341 (2018)

Allele A

OR —

p 4.0e-10

N 408,458

Large GWAS

European

Matsunaga H et al. “Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease.” Circulation. Genomic and Precision Medicine 13(3):e002670 (2020)

Allele A

OR 1.07

p 1.0e-14

N 392,241

Meta-analysisLarge GWAS

multi-ancestry

Nikpay M et al. “A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.” Nature Genetics 47(10):1121-1130 (2015)

Allele A

OR 1.08

p 8.0e-11

N 187,599

Meta-analysisLarge GWAS

multi-ancestry

Nelson CP et al. “Association analyses based on false discovery rate implicate new loci for coronary artery disease.” Nature Genetics 49(9):1385-1391 (2017)

Allele A

OR 1.08

p 3.0e-13

N 63,731

Large GWAS

European, NR

aortic measurement

Francis CM et al. “Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.” Nature Communications 13(1):4505 (2022)

Allele G

OR 7.57

p 3.0e-24

N 32,590

Large GWAS

European

cerebrovascular disorder

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.08

p 2.0e-23

N 597,128

Major Consortium StudyLarge GWAS

multi-ancestry

coronary atherosclerosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.06

p 4.0e-17

N 602,192

Major Consortium StudyLarge GWAS

multi-ancestry

stroke

Traylor M et al. “Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.” The Lancet. Neurology 11(11):951-62 (2012)

Allele A

OR 1.39

p 2.0e-16

N 74,393

Meta-analysisLarge GWAS

multi-ancestry

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)

Allele A

OR 0.02

p 1.0e-10

N 901,954

Large GWAS

European

peripheral vascular disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.08

p 1.0e-15

N 601,085

Major Consortium StudyLarge GWAS

multi-ancestry

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Research that mentions this SNP (1)

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Genome‐Wide Study of Subcutaneous and Visceral Adipose Tissue Reveals Novel Sex‐Specific Adiposity Loci in Mexican Americans

AssociationN=1,417Chuan Gao et al.(2018)· Obesity

This genome-wide association study (GWAS) in 1,417 Mexican Americans identified six loci with genome-wide significant associations with fat deposition phenotypes (visceral and subcutaneous adipose tissue). The strongest signal was rs2185405 in GLIS3 associated with visceral adipose tissue (P=1.98×10⁻⁸), with carriers of the minor allele showing 19.91 cm² less visceral fat. Sex-stratified analyses revealed SRFBP1 and SNX13 loci with male-specific associations, and SNP-sex interaction analyses identified significant variants in TMCC1, PAPPA2, and TBX15.

Traits studied:AdiposityBody mass indexInsulin resistanceSubcutaneous adipose tissueVisceral adipose tissueVisceral-subcutaneous ratio

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

rs2107595

GWAS Catalog Trait Associations (28)

pulse pressure measurement

occlusion precerebral artery

Moyamoya disease

descending aorta diameter

coronary artery disease

aortic measurement

cerebrovascular disorder

coronary atherosclerosis

stroke

peripheral vascular disease

Research that mentions this SNP (1)

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