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rs59296273

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs59296273(A;T)
Make rs59296273(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41571512
GeneKRT9
is asnp
is mentioned by
dbSNPrs59296273
dbSNP (classic)rs59296273
ClinGenrs59296273
ebirs59296273
HLIrs59296273
Exacrs59296273
Gnomadrs59296273
Varsomers59296273
LitVarrs59296273
Maprs59296273
PheGenIrs59296273
Biobankrs59296273
1000 genomesrs59296273
hgdprs59296273
ensemblrs59296273
geneviewrs59296273
scholarrs59296273
googlers59296273
pharmgkbrs59296273
gwascentralrs59296273
openSNPrs59296273
23andMers59296273
SNPshotrs59296273
SNPdbers59296273
MSV3drs59296273
GWAS Ctlgrs59296273
Max Magnitude0
OMIM607606
Desc
Variant0003
Relatedalso


ClinVar
Risk rs59296273(C;C) rs59296273(T;T)
Alt rs59296273(C;C) rs59296273(T;T)
Reference Rs59296273(A;A)
Significance Pathogenic
Disease Epidermolytic palmoplantar keratoderma not provided
Variation info
Gene KRT9
CLNDBN Epidermolytic palmoplantar keratoderma not provided
Reversed 1
HGVS NC_000017.10:g.39727764T>A; NC_000017.10:g.39727764T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003135.2, RCV000056460.1, RCV000056459.1,