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rs57536312

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs57536312(A;A)
Make rs57536312(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41571510
GeneKRT9
is asnp
is mentioned by
dbSNPrs57536312
dbSNP (classic)rs57536312
ClinGenrs57536312
ebirs57536312
HLIrs57536312
Exacrs57536312
Gnomadrs57536312
Varsomers57536312
LitVarrs57536312
Maprs57536312
PheGenIrs57536312
Biobankrs57536312
1000 genomesrs57536312
hgdprs57536312
ensemblrs57536312
geneviewrs57536312
scholarrs57536312
googlers57536312
pharmgkbrs57536312
gwascentralrs57536312
openSNPrs57536312
23andMers57536312
SNPshotrs57536312
SNPdbers57536312
MSV3drs57536312
GWAS Ctlgrs57536312
Max Magnitude0
OMIM607606
Desc
Variant0004
Relatedalso


ClinVar
Risk rs57536312(A;A)
Alt rs57536312(A;A)
Reference Rs57536312(T;T)
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.39727762A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003136.2, RCV000056463.1,