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rs61371557

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61371557(G;G)
Make rs61371557(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41583872
GeneKRT14
is asnp
is mentioned by
dbSNPrs61371557
ebirs61371557
HLIrs61371557
Exacrs61371557
Varsomers61371557
Maprs61371557
PheGenIrs61371557
hapmaprs61371557
1000 genomesrs61371557
hgdprs61371557
ensemblrs61371557
gopubmedrs61371557
geneviewrs61371557
scholarrs61371557
googlers61371557
pharmgkbrs61371557
gwascentralrs61371557
openSNPrs61371557
23andMers61371557
23andMe allrs61371557
SNP Nexus

SNPshotrs61371557
SNPdbers61371557
MSV3drs61371557
GWAS Ctlgrs61371557
Max Magnitude0
OMIM148066
Desc
Variant0007
Relatedalso


ClinVar
Risk rs61371557(C,G;C,G)
Alt rs61371557(C,G;C,G)
Reference rs61371557(T;T)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided
Variation info
Gene KRT14
CLNDBN Epidermolysis bullosa simplex, Koebner type not provided
Reversed 1
HGVS NC_000017.10:g.39740124A>C; NC_000017.10:g.39740124A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015721.25, RCV000056753.1, RCV000056752.1,