rs61755579

This is a variant in the SOS2 gene that changes a alanine to an serine.

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GWAS Catalog Trait Associations (10)

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

aspartate aminotransferase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.08
p 2.0e-45
N 394,642
Large GWAS
European

aspartate aminotransferase to alanine aminotransferase ratio

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 0.09
p 6.0e-28
N 389,192
Major Consortium StudyLarge GWAS
European

systolic blood pressure

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 0.06
p 2.0e-14
N 425,740
Major Consortium StudyLarge GWAS
European

serum alanine aminotransferase amount

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 0.05
p 3.0e-13
N 406,783
Major Consortium StudyLarge GWAS
European

open-angle glaucoma

Han X et al. “Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.” Nature Genetics 55(7):1116-1125 (2023)
Allele T
OR 0.19
p 4.0e-13
N 432,017
Large GWAS
multi-ancestry

intraocular pressure measurement

Khawaja AP et al. “Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.” Nature Genetics 50(6):778-782 (2018)
Allele C
OR 0.25
p 4.0e-11
N 139,555
Large GWAS
European
Craig JE et al. “Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.” Nature Genetics 52(2):160-166 (2020)
Allele C
OR —
p 2.0e-10
N 133,492
Large GWAS
European
Han X et al. “Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study.” Jama Ophthalmology 138(6):671-678 (2020)
Allele C
OR 0.26
p 1.0e-9
N 101,939
Major Consortium StudyLarge GWAS
European

pulse pressure measurement

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 T
OR 0.42
p 1.0e-10
N 459,777
Large GWAS
multi-ancestry

body composition measurement

Wu Z et al. “Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk.” Nature Communications 16(1):7490 (2025)
Allele T
OR 0.12
p 2.0e-9
N 39,007
Large GWAS
European

HbA1c 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 C
OR 0.07
p 6.0e-14
N 338,848
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Pathogenic★☆☆☆
3 submitters3 publications

Noonan syndrome 9 (NS9); not specified

View on ClinVar →

About SOS2

This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]

View all SOS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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