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rs641615

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs641615(A;A)
Make rs641615(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position52519125
GeneKRT5
is asnp
is mentioned by
dbSNPrs641615
dbSNP (classic)rs641615
ClinGenrs641615
ebirs641615
HLIrs641615
Exacrs641615
Gnomadrs641615
Varsomers641615
LitVarrs641615
Maprs641615
PheGenIrs641615
Biobankrs641615
1000 genomesrs641615
hgdprs641615
ensemblrs641615
geneviewrs641615
scholarrs641615
googlers641615
pharmgkbrs641615
gwascentralrs641615
openSNPrs641615
23andMers641615
23andMe allrs641615
SNPshotrs641615
SNPdbers641615
MSV3drs641615
GWAS Ctlgrs641615
GMAF0.253
Max Magnitude0
? (A;A) (A;C) (C;C) 28



ClinVar
Risk rs641615(A;A) rs641615(G;G)
Alt rs641615(A;A) rs641615(G;G)
Reference Rs641615(C;C)
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.52912909G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000056634.1, RCV000250318.1, RCV000327778.1,