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rs28928893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28928893(C;C)
Make rs28928893(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41586479
GeneKRT14
is asnp
is mentioned by
dbSNPrs28928893
ebirs28928893
HLIrs28928893
Exacrs28928893
Varsomers28928893
Maprs28928893
PheGenIrs28928893
hapmaprs28928893
1000 genomesrs28928893
hgdprs28928893
ensemblrs28928893
gopubmedrs28928893
geneviewrs28928893
scholarrs28928893
googlers28928893
pharmgkbrs28928893
gwascentralrs28928893
openSNPrs28928893
23andMers28928893
23andMe allrs28928893
SNP Nexus

SNPshotrs28928893
SNPdbers28928893
MSV3drs28928893
GWAS Ctlgrs28928893
Max Magnitude0
OMIM148066
DescEPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
Variant0009
Relatedalso
Neighborrs3826550
Distance76


ClinVar
Risk rs28928893(C;C)
Alt rs28928893(C;C)
Reference rs28928893(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.39742731A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015723.25, RCV000056708.1,



[PMID 9804355] Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).