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rs121912474

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912474(C;C)
Make rs121912474(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52520277
GeneKRT5
is asnp
is mentioned by
dbSNPrs121912474
ebirs121912474
HLIrs121912474
Exacrs121912474
Varsomers121912474
Maprs121912474
PheGenIrs121912474
hapmaprs121912474
1000 genomesrs121912474
hgdprs121912474
ensemblrs121912474
gopubmedrs121912474
geneviewrs121912474
scholarrs121912474
googlers121912474
pharmgkbrs121912474
gwascentralrs121912474
openSNPrs121912474
23andMers121912474
23andMe allrs121912474
SNP Nexus

SNPshotrs121912474
SNPdbers121912474
MSV3drs121912474
GWAS Ctlgrs121912474
Max Magnitude0
OMIM148040
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912474(C;C)
Alt rs121912474(C;C)
Reference rs121912474(T;T)
Significance Pathogenic
Disease Epidermolysis bullosa simplex
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex, Koebner type
Reversed 1
HGVS NC_000012.11:g.52914061A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015752.25,