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rs60171927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs60171927(A;G)
Make rs60171927(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41586467
GeneKRT14
is asnp
is mentioned by
dbSNPrs60171927
ebirs60171927
HLIrs60171927
Exacrs60171927
Varsomers60171927
Maprs60171927
PheGenIrs60171927
hapmaprs60171927
1000 genomesrs60171927
hgdprs60171927
ensemblrs60171927
gopubmedrs60171927
geneviewrs60171927
scholarrs60171927
googlers60171927
pharmgkbrs60171927
gwascentralrs60171927
openSNPrs60171927
23andMers60171927
23andMe allrs60171927
SNP Nexus

SNPshotrs60171927
SNPdbers60171927
MSV3drs60171927
GWAS Ctlgrs60171927
Max Magnitude0
OMIM148066
Desc
Variant0018
Relatedalso


ClinVar
Risk rs60171927(G;G)
Alt rs60171927(G;G)
Reference rs60171927(A;A)
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.39742719T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015733.26, RCV000056713.1,