rs10498635

This is a intron variant variant in the RIN3 gene.

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GWAS Catalog Trait Associations (7)

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

myeloid leukocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.03
p 7.0e-39
N 562,243
Large GWAS
European

neutrophil count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.03
p 9.0e-34
N 519,288
Large GWAS
European

breast cancer, ovarian carcinoma

Guo H et al. “A genome-wide cross-cancer meta-analysis highlights the shared genetic links of five solid cancers.” Frontiers in Microbiology 14:1116592 (2023)
Allele C
OR —
p 9.0e-13
N 295,401
Meta-analysisLarge GWAS

breast cancer, lung cancer

Guo H et al. “A genome-wide cross-cancer meta-analysis highlights the shared genetic links of five solid cancers.” Frontiers in Microbiology 14:1116592 (2023)
Allele C
OR —
p 5.0e-12
N 256,160
Meta-analysisLarge GWAS

osteitis deformans

Albagha OM et al. “Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.” Nature Genetics 43(7):685-9 (2011)
Allele C
OR 1.44
p 3.0e-11
N 3,440
Large GWAS
European

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 T
OR 0.13
p 3.0e-9
N 1,028,980
Large GWAS
multi-ancestry
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.13
p 3.0e-8
N 810,865
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Identification of rare genetic variants in novel loci associated with Paget’s disease of bone
AssociationN=537Mariejka Beauregard et al.(2014)· Human Genetics

This association study identified 126 rare genetic variants in candidate genes within five novel Paget's disease of bone (PDB)-associated loci in a French-Canadian population (240 cases, 297 controls). The study replicated associations with common variants rs484959, rs499345, rs10494112 (1p13 locus) and rs5742915 (15q24 locus). Two rare variants showed marginal association with PDB: rs62620995 (p.Leu397Phe in TM7SF4, p=0.09, RR=2.06) and rs35500845 (c.372+259a>G in CTHRC1, p=0.046, RR=0.65).

Traits studied:Paget's disease of bone
PubMedDOIMetascience Observatory

About RIN3

Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

View all RIN3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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