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rs11170164

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/142
Chromosome12
Position52519884
GeneKRT5
is asnp
is mentioned by
dbSNPrs11170164
ebirs11170164
HLIrs11170164
Exacrs11170164
Varsomers11170164
Maprs11170164
PheGenIrs11170164
hapmaprs11170164
1000 genomesrs11170164
hgdprs11170164
ensemblrs11170164
gopubmedrs11170164
geneviewrs11170164
scholarrs11170164
googlers11170164
pharmgkbrs11170164
gwascentralrs11170164
openSNPrs11170164
23andMers11170164
23andMe allrs11170164
SNP Nexus

SNPshotrs11170164
SNPdbers11170164
MSV3drs11170164
GWAS Ctlgrs11170164
GMAF0.02893
Max Magnitude2
? (A;A) (A;G) (G;G) 28

23andMe blog rs11170164 T 1.35 Basal Cell Carcinoma


Venter snp
Source plos
Gene KRT5
allele T
frequency 0.083
sift AFFECT FUNCTION
HuRef 1103649442600
Disease Association Defects in KRT5 are the cause of epidermolysis bullosa simplex with mottled pigmentation (MP-EBS) (MIM:131960). MP-EBS is characterized by additional reticular hyperpigmentation.



Neighborrs641615
Distance759
[PMID 19578363OA-icon.png] New common variants affecting susceptibility to basal cell carcinoma
OMIM613061
Desc
Variant
Relatedalso


GET Evidence
KRT5-G138E
aa_change Gly138Glu
aa_change_short G138E
impact pathogenic
qualified_impact Low clinical importance, Likely pathogenic
overall_frequency 0.0521472
summary This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).



ClinVar
Risk rs11170164(A;A)
Alt rs11170164(A;A)
Reference rs11170164(G;G)
Significance Untested
Disease not provided
Variation info
Gene KRT5
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.52913668C>T
CLNSRC ClinVar Epithelial Biology
CLNACC RCV000056586.1,



GWAS snp
PMID [PMID 24403052OA-icon.png]
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]