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rs57364972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs57364972(A;A)
Make rs57364972(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41583253
GeneKRT14
is asnp
is mentioned by
dbSNPrs57364972
ebirs57364972
HLIrs57364972
Exacrs57364972
Varsomers57364972
Maprs57364972
PheGenIrs57364972
hapmaprs57364972
1000 genomesrs57364972
hgdprs57364972
ensemblrs57364972
gopubmedrs57364972
geneviewrs57364972
scholarrs57364972
googlers57364972
pharmgkbrs57364972
gwascentralrs57364972
openSNPrs57364972
23andMers57364972
23andMe allrs57364972
SNP Nexus

SNPshotrs57364972
SNPdbers57364972
MSV3drs57364972
GWAS Ctlgrs57364972
Max Magnitude0
OMIM148066
Desc
Variant0012
Relatedalso
ClinVar
Risk rs57364972(A;A)
Alt rs57364972(A;A)
Reference rs57364972(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.39739505A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015727.21, RCV000056691.1,