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rs58330629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs58330629(A;A)
Make rs58330629(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41586461
GeneKRT14
is asnp
is mentioned by
dbSNPrs58330629
ebirs58330629
HLIrs58330629
Exacrs58330629
Varsomers58330629
Maprs58330629
PheGenIrs58330629
hapmaprs58330629
1000 genomesrs58330629
hgdprs58330629
ensemblrs58330629
gopubmedrs58330629
geneviewrs58330629
scholarrs58330629
googlers58330629
pharmgkbrs58330629
gwascentralrs58330629
openSNPrs58330629
23andMers58330629
23andMe allrs58330629
SNP Nexus

SNPshotrs58330629
SNPdbers58330629
MSV3drs58330629
GWAS Ctlgrs58330629
Max Magnitude0
OMIM148066
Desc
Variant0003
Relatedalso


ClinVar
Risk rs58330629(A,C,T;A,C,T)
Alt rs58330629(A,C,T;A,C,T)
Reference rs58330629(G;G)
Significance Pathogenic
Disease not provided Epidermolysis bullosa herpetiformis
Variation info
Gene KRT14
CLNDBN not provided Epidermolysis bullosa herpetiformis, Dowling-Meara
Reversed 1
HGVS NC_000017.10:g.39742713C>A; NC_000017.10:g.39742713C>G; NC_000017.10:g.39742713C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056720.1, RCV000056719.1, RCV000015717.26, RCV000056718.1,