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rs61348633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61348633(A;G)
Make rs61348633(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52516652
GeneKRT5
is asnp
is mentioned by
dbSNPrs61348633
ebirs61348633
HLIrs61348633
Exacrs61348633
Varsomers61348633
Maprs61348633
PheGenIrs61348633
hapmaprs61348633
1000 genomesrs61348633
hgdprs61348633
ensemblrs61348633
gopubmedrs61348633
geneviewrs61348633
scholarrs61348633
googlers61348633
pharmgkbrs61348633
gwascentralrs61348633
openSNPrs61348633
23andMers61348633
23andMe allrs61348633
SNP Nexus

SNPshotrs61348633
SNPdbers61348633
MSV3drs61348633
GWAS Ctlgrs61348633
Max Magnitude0
OMIM148040
Desc
Variant0001
Relatedalso


ClinVar
Risk rs61348633(G;G)
Alt rs61348633(G;G)
Reference rs61348633(A;A)
Significance Pathogenic
Disease Epidermolysis bullosa herpetiformis not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa herpetiformis, Dowling-Meara not provided
Reversed 1
HGVS NC_000012.11:g.52910436T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015744.25, RCV000056562.1,