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rs121912475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912475(G;T)
Make rs121912475(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52519160
GeneKRT5
is asnp
is mentioned by
dbSNPrs121912475
ebirs121912475
HLIrs121912475
Exacrs121912475
Varsomers121912475
Maprs121912475
PheGenIrs121912475
hapmaprs121912475
1000 genomesrs121912475
hgdprs121912475
ensemblrs121912475
gopubmedrs121912475
geneviewrs121912475
scholarrs121912475
googlers121912475
pharmgkbrs121912475
gwascentralrs121912475
openSNPrs121912475
23andMers121912475
23andMe allrs121912475
SNP Nexus

SNPshotrs121912475
SNPdbers121912475
MSV3drs121912475
GWAS Ctlgrs121912475
Max Magnitude0
OMIM148040
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121912475(A,T;A,T)
Alt rs121912475(A,T;A,T)
Reference rs121912475(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex, Koebner type not provided
Reversed 1
HGVS NC_000012.11:g.52912944C>A; NC_000012.11:g.52912944C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015758.25, RCV000056625.1, RCV000056624.1,