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rs58762773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs58762773(A;A)
Make rs58762773(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41583245
GeneKRT14
is asnp
is mentioned by
dbSNPrs58762773
dbSNP (classic)rs58762773
ClinGenrs58762773
ebirs58762773
HLIrs58762773
Exacrs58762773
Gnomadrs58762773
Varsomers58762773
LitVarrs58762773
Maprs58762773
PheGenIrs58762773
Biobankrs58762773
1000 genomesrs58762773
hgdprs58762773
ensemblrs58762773
geneviewrs58762773
scholarrs58762773
googlers58762773
pharmgkbrs58762773
gwascentralrs58762773
openSNPrs58762773
23andMers58762773
SNPshotrs58762773
SNPdbers58762773
MSV3drs58762773
GWAS Ctlgrs58762773
Max Magnitude0
OMIM148066
Desc
Variant0013
Relatedalso
ClinVar
Risk rs58762773(A;A)
Alt rs58762773(A;A)
Reference Rs58762773(G;G)
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.39739497C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015728.26, RCV000056692.1,