rs10931936

This variant is located in the CASP8 gene.

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GWAS Catalog Trait Associations (4)

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

basal cell carcinoma

Seviiri M et al. “A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.” Nature Communications 13(1):7650 (2022)
Allele C
OR —
p 1.0e-197
N 307,684
Large GWAS
European

platelet crit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.03
p 8.0e-27
N 408,112
Large GWAS
European

cutaneous melanoma

Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)
Allele T
OR 1.08
p 2.0e-12
N 411,948
Large GWAS
European
Liyanage UE et al. “Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma.” The Journal of Investigative Dermatology 142(6):1607-1616 (2022)
Allele T
OR 0.04
p 1.0e-8
N 380,287
Large GWAS
European

cancer

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)
Allele T
OR 0.00
p 3.0e-8
N 283,034
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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IRF4 rs12203592 functional variant and melanoma survival
Meta-analysisN=140,000Miriam Potrony et al.(2017)· International Journal of Cancer

Genome-wide association meta-analysis of cutaneous melanoma combining pathologically confirmed cases with 23andMe self-reported cases identified 54 genome-wide significant loci. The study confirmed 19 of 21 previously reported loci, revealed complex LD structure at the AHR/AGR3 region (rs117132860, p=3.8×10−21), and identified novel associations including those near MFSD12/FZR1. Key variants included rs12215602 (IRF4), rs16953002 and rs62034121 (FTO), and variants associated with pigmentation phenotypes (hair color, nevus count, sunburn susceptibility).

Traits studied:Childhood sunburnsCutaneous melanomaEase of tanningMelanoma histological subtypes (superficial spreading, nodular, lentigo maligna, acral)Melanoma susceptibilityNevus countPigmentation traits (hair color, skin color, eye color)Telomere length
PubMedDOIMetascience Observatory

About CASP8

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008]

View all CASP8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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