rs2995264

This variant is located in the STN1 gene.

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GWAS Catalog Trait Associations (2)

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

cutaneous melanoma

Law MH et al. “Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.” Nature Genetics 47(9):987-995 (2015)

Allele G

OR 0.16

p 2.0e-9

N 36,077

Meta-analysisLarge GWAS

European

melanoma

Ransohoff KJ et al. “Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.” Oncotarget 8(11):17586-17592 (2017)

Allele G

OR 1.17

p 2.0e-9

N 291,407

Large GWAS

European

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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