rs17080102

This is a regulatory region variant variant in the PLEKHG1 gene.

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GWAS Catalog Trait Associations (6)

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

systolic blood pressure

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele C

OR 0.04

p 2.0e-36

N 928,679

Large GWAS

multi-ancestry

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 C

OR 0.04

p 3.0e-18

N 609,479

Major Consortium StudyLarge GWAS

multi-ancestry

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)

Allele C

OR 0.75

p 4.0e-26

N 526,001

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.03

p 2.0e-14

N 394,642

Large GWAS

European

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 C

OR 0.59

p 5.0e-16

N 321,262

Large GWAS

multi-ancestry

Franceschini N et al. “Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.” American Journal of Human Genetics 93(3):545-54 (2013)

Allele C

OR 1.02

p 5.0e-8

N 29,378

Large GWAS

multi-ancestry

diastolic blood pressure

Allele C

OR 0.04

p 1.0e-31

N 928,679

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 C

OR 0.40

p 1.0e-18

N 321,262

Large GWAS

multi-ancestry

Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)

Allele C

OR 0.57

p 1.0e-10

N 150,134

Large GWAS

multi-ancestry

Allele C

OR 0.74

p 2.0e-11

N 29,378

Large GWAS

multi-ancestry

essential hypertension

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 0.07

p 1.0e-13

N 607,740

Major Consortium StudyLarge GWAS

multi-ancestry

hypertension

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 0.07

p 3.0e-13

N 608,262

Major Consortium StudyLarge GWAS

multi-ancestry

hypertension, Antihypertensive use measurement

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 0.07

p 2.0e-11

N 404,034

Major Consortium StudyLarge GWAS

multi-ancestry

hematocrit

Allele C

OR 0.02

p 3.0e-9

N 928,679

Large GWAS

multi-ancestry

About PLEKHG1

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

rs17080102

GWAS Catalog Trait Associations (6)

systolic blood pressure

diastolic blood pressure

essential hypertension

hypertension

hypertension, Antihypertensive use measurement

hematocrit

About PLEKHG1

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