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rs121912476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912476(A;A)
Make rs121912476(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52516824
GeneKRT5
is asnp
is mentioned by
dbSNPrs121912476
ebirs121912476
HLIrs121912476
Exacrs121912476
Varsomers121912476
Maprs121912476
PheGenIrs121912476
hapmaprs121912476
1000 genomesrs121912476
hgdprs121912476
ensemblrs121912476
gopubmedrs121912476
geneviewrs121912476
scholarrs121912476
googlers121912476
pharmgkbrs121912476
gwascentralrs121912476
openSNPrs121912476
23andMers121912476
23andMe allrs121912476
SNP Nexus

SNPshotrs121912476
SNPdbers121912476
MSV3drs121912476
GWAS Ctlgrs121912476
Max Magnitude0
OMIM148040
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121912476(A;A)
Alt rs121912476(A;A)
Reference rs121912476(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex, autosomal recessive not provided
Reversed 1
HGVS NC_000012.11:g.52910608C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015765.27, RCV000056546.1,