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Who was studied 4,572 European ancestry cases, 266,358 European ancestry controls; replicated in up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls.
The effect
Each copy of the T allele carried 1.29 times the odds of Basal cell carcinoma; p = 9 × 10−9.
How common The T allele had a frequency of about 9% in the people studied.
Where it sits Chromosome 12, band 12q13.13 — a missense change in KRT5.
What ClinVar records
ClassificationBenign for Epidermolysis bullosa simplex; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2026-01-26.
ClinVar record 66234NM_000424.4(KRT5):c.413G>A (p.Gly138Glu)
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
What each result means
C/CNo copy of the version the research linked to Basal cell carcinoma. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Basal cell carcinoma. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Basal cell carcinoma. That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature communications · 2015 · PMID 25855136 · open access
Questions about rs11170164
What is rs11170164?
rs11170164 is a single position in the genome, in or near the KRT5 gene. Published research associates it with basal cell carcinoma. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs11170164 linked to?
On MyGeneLog this position is linked to Basal Cell Carcinoma. The research behind each link, and its sources, are set out on that condition page.
Does having rs11170164 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs11170164 come from?
GWAS Catalog, Nat Commun 2015, PMID:25855136. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
3 476233223125Reads by AI crawlersClaude6ChatGPT2Google · Gemini0Perplexity3Meta AI3Microsoft · Copilot2Amazon2Apple3China (ByteDance, Huawei, Baidu…)1ByteDance (Doubao)1Others25Total47Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
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