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rs58380626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs58380626(C;C)
Make rs58380626(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41583266
GeneKRT14
is asnp
is mentioned by
dbSNPrs58380626
ebirs58380626
HLIrs58380626
Exacrs58380626
Varsomers58380626
Maprs58380626
PheGenIrs58380626
hapmaprs58380626
1000 genomesrs58380626
hgdprs58380626
ensemblrs58380626
gopubmedrs58380626
geneviewrs58380626
scholarrs58380626
googlers58380626
pharmgkbrs58380626
gwascentralrs58380626
openSNPrs58380626
23andMers58380626
23andMe allrs58380626
SNP Nexus

SNPshotrs58380626
SNPdbers58380626
MSV3drs58380626
GWAS Ctlgrs58380626
Max Magnitude0
OMIM148066
Desc
Variant0011
Relatedalso


ClinVar
Risk rs58380626(C;C)
Alt rs58380626(C;C)
Reference rs58380626(T;T)
Significance Pathogenic
Disease Epidermolysis bullosa herpetiformis not provided
Variation info
Gene KRT14
CLNDBN Epidermolysis bullosa herpetiformis, Dowling-Meara not provided
Reversed 1
HGVS NC_000017.10:g.39739518A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015726.21, RCV000056685.1,