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rs57019720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs57019720(A;A)
Make rs57019720(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41571482
GeneKRT9
is asnp
is mentioned by
dbSNPrs57019720
dbSNP (classic)rs57019720
ClinGenrs57019720
ebirs57019720
HLIrs57019720
Exacrs57019720
Gnomadrs57019720
Varsomers57019720
LitVarrs57019720
Maprs57019720
PheGenIrs57019720
Biobankrs57019720
1000 genomesrs57019720
hgdprs57019720
ensemblrs57019720
geneviewrs57019720
scholarrs57019720
googlers57019720
pharmgkbrs57019720
gwascentralrs57019720
openSNPrs57019720
23andMers57019720
SNPshotrs57019720
SNPdbers57019720
MSV3drs57019720
GWAS Ctlgrs57019720
Max Magnitude0
OMIM607606
Desc
Variant0011
Relatedalso


ClinVar
Risk rs57019720(A;A)
Alt rs57019720(A;A)
Reference Rs57019720(G;G)
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.39727734C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003143.2, RCV000056471.1,