rs11170164
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | 1.35x risk of basal cell carcinoma |
| (C;C) | 0 | |
| (G;G) | 0 | common on affy axiom data |
| Make rs11170164(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 52519884 |
| Gene | KRT5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11170164 |
| dbSNP (classic) | rs11170164 |
| ClinGen | rs11170164 |
| ebi | rs11170164 |
| HLI | rs11170164 |
| Exac | rs11170164 |
| Gnomad | rs11170164 |
| Varsome | rs11170164 |
| LitVar | rs11170164 |
| Map | rs11170164 |
| PheGenI | rs11170164 |
| Biobank | rs11170164 |
| 1000 genomes | rs11170164 |
| hgdp | rs11170164 |
| ensembl | rs11170164 |
| geneview | rs11170164 |
| scholar | rs11170164 |
| rs11170164 | |
| pharmgkb | rs11170164 |
| gwascentral | rs11170164 |
| openSNP | rs11170164 |
| 23andMe | rs11170164 |
| SNPshot | rs11170164 |
| SNPdbe | rs11170164 |
| MSV3d | rs11170164 |
| GWAS Ctlg | rs11170164 |
| GMAF | 0.02893 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
23andMe blog rs11170164 T 1.35 Basal Cell Carcinoma
[PMID 19578363
] New common variants affecting susceptibility to basal cell carcinoma
| ClinVar | |
|---|---|
| Risk | Rs11170164(A;A) |
| Alt | Rs11170164(A;A) |
| Reference | Rs11170164(G;G) |
| Significance | Non-pathogenic |
| Disease | not provided not specified Epidermolysis bullosa simplex |
| Variation | info |
| Gene | KRT5 |
| CLNDBN | not provided not specified Epidermolysis bullosa simplex |
| Reversed | 1 |
| HGVS | NC_000012.11:g.52913668C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000056586.1, RCV000249209.1, RCV000343050.1, |
| GWAS snp | |
|---|---|
| PMID | [PMID 24403052]
|
| Trait | Basal cell carcinoma |
| Title | Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. |
| Risk Allele | T |
| P-val | 3E-6 |
| Odds Ratio | 1.25 [1.14-1.37] |
