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rs28940896

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28940896(C;T)
Make rs28940896(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41571515
GeneKRT9
is asnp
is mentioned by
dbSNPrs28940896
ebirs28940896
HLIrs28940896
Exacrs28940896
Varsomers28940896
Maprs28940896
PheGenIrs28940896
hapmaprs28940896
1000 genomesrs28940896
hgdprs28940896
ensemblrs28940896
gopubmedrs28940896
geneviewrs28940896
scholarrs28940896
googlers28940896
pharmgkbrs28940896
gwascentralrs28940896
openSNPrs28940896
23andMers28940896
23andMe allrs28940896
SNP Nexus

SNPshotrs28940896
SNPdbers28940896
MSV3drs28940896
GWAS Ctlgrs28940896
Max Magnitude0
OMIM607606
DescPALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS
Variant0012
Relatedalso
OMIM607606
Desc
Variant0009
Relatedalso


ClinVar
Risk rs28940896(G,T;G,T)
Alt rs28940896(G,T;G,T)
Reference rs28940896(C;C)
Significance Pathogenic
Disease Palmoplantar keratoderma not provided Epidermolytic palmoplantar keratoderma
Variation info
Gene KRT9
CLNDBN Palmoplantar keratoderma, epidermolytic, with knuckle pads not provided Epidermolytic palmoplantar keratoderma
Reversed 1
HGVS NC_000017.10:g.39727767G>A; NC_000017.10:g.39727767G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003144.2, RCV000056458.1, RCV000003141.2, RCV000056457.1,