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rs56707768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs56707768(A;G)
Make rs56707768(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41571511
GeneKRT9
is asnp
is mentioned by
dbSNPrs56707768
ebirs56707768
HLIrs56707768
Exacrs56707768
Varsomers56707768
Maprs56707768
PheGenIrs56707768
hapmaprs56707768
1000 genomesrs56707768
hgdprs56707768
ensemblrs56707768
gopubmedrs56707768
geneviewrs56707768
scholarrs56707768
googlers56707768
pharmgkbrs56707768
gwascentralrs56707768
openSNPrs56707768
23andMers56707768
23andMe allrs56707768
SNP Nexus

SNPshotrs56707768
SNPdbers56707768
MSV3drs56707768
GWAS Ctlgrs56707768
Max Magnitude0
OMIM607606
Desc
Variant0007
Relatedalso
OMIM607606
Desc
Variant0013
Relatedalso
ClinVar
Risk rs56707768(G,T;G,T)
Alt rs56707768(G,T;G,T)
Reference rs56707768(A;A)
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.39727763T>A; NC_000017.10:g.39727763T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003145.2, RCV000056462.1, RCV000003139.2, RCV000056461.1,