rs11170164

This is a variant in the KRT5 gene that changes a glycine to an glutamate.

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GWAS Catalog Trait Associations (7)

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 T
OR —
p 8.0e-137
N 307,684
Large GWAS
European
Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)
Allele T
OR 1.22
p 2.0e-53
N 812,765
Meta-analysisLarge GWAS
multi-ancestry
Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)
Allele T
OR 1.20
p 2.0e-34
N 651,138
Large GWAS
European
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 T
OR 0.22
p 1.0e-52
N 435,548
Major Consortium StudyLarge GWAS
European
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 0.24
p 5.0e-12
N 394,626
Large GWAS
European
Adolphe C et al. “Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility.” Genome Medicine 13(1):19 (2021)
Allele T
OR 0.20
p 3.0e-25
N 392,871
Large GWAS
European
Chahal HS et al. “Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.” Nature Communications 7:12510 (2016)
Allele T
OR 1.19
p 1.0e-15
N 275,209
Large GWAS
European
Stacey SN et al. “New basal cell carcinoma susceptibility loci.” Nature Communications 6:6825 (2015)
Allele T
OR 1.29
p 9.0e-9
N 270,930
Large GWAS
multi-ancestry

keratinocyte carcinoma

Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)
Allele T
OR 1.19
p 2.0e-32
N 358,840
Large GWAS
European

cutaneous melanoma

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 0.13
p 4.0e-25
N 434,871
Major Consortium StudyLarge GWAS
European

seborrheic keratosis

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 3.0e-15
N 569,895
Major Consortium StudyLarge GWAS
multi-ancestry

non-melanoma skin carcinoma

Visconti A et al. “Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.” Nature Communications 9(1):1684 (2018)
Allele C
OR 1.25
p 2.0e-12
N 187,652
Large GWAS

skin cancer

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 0.12
p 3.0e-19
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

skin neoplasm

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.16
p 4.0e-19
N 670,929
Large GWAS
multi-ancestry
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 2.0e-16
N 398,106
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
6 submitters2 publications

Epidermolysis bullosa simplex; not specified

View on ClinVar →

About KRT5

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

View all KRT5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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