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rs57758262

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs57758262(A;A)
Make rs57758262(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41571505
GeneKRT9
is asnp
is mentioned by
dbSNPrs57758262
ebirs57758262
HLIrs57758262
Exacrs57758262
Varsomers57758262
Maprs57758262
PheGenIrs57758262
hapmaprs57758262
1000 genomesrs57758262
hgdprs57758262
ensemblrs57758262
gopubmedrs57758262
geneviewrs57758262
scholarrs57758262
googlers57758262
pharmgkbrs57758262
gwascentralrs57758262
openSNPrs57758262
23andMers57758262
23andMe allrs57758262
SNP Nexus

SNPshotrs57758262
SNPdbers57758262
MSV3drs57758262
GWAS Ctlgrs57758262
Max Magnitude0
OMIM607606
Desc
Variant0005
Relatedalso


ClinVar
Risk rs57758262(A,C;A,C)
Alt rs57758262(A,C;A,C)
Reference rs57758262(G;G)
Significance Pathogenic
Disease not provided Epidermolytic palmoplantar keratoderma
Variation info
Gene KRT9
CLNDBN not provided Epidermolytic palmoplantar keratoderma
Reversed 1
HGVS NC_000017.10:g.39727757C>G; NC_000017.10:g.39727757C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056467.1, RCV000003137.2, RCV000056466.1,