rs79342925

This is a intron variant variant in the STN1 gene.

GWAS Catalog Trait Associations (5)

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

erythrocyte volume

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 2.0e-13
N 129,832
Large GWAS
East Asian

erythrocyte count

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.04
p 4.0e-13
N 153,512
Large GWAS
East Asian

platelet count

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 4.0e-13
N 499,097
Large GWAS
multi-ancestry
Allele T
OR 0.04
p 6.0e-10
N 153,950
Large GWAS
East Asian

female genital tract polyp

Allele C
OR 0.83
p 4.0e-10
N 457,977
Large GWAS
European

uterine fibroid

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.34
p 6.0e-56
N 338,926
Large GWAS
multi-ancestry
Allele T
OR 0.32
p 8.0e-36
N 253,542
Meta-analysisLarge GWAS
East Asian, Central Asian, South Asian

About STN1

OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]

View all STN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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