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rs59616921

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs59616921(C;T)
Make rs59616921(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41571506
GeneKRT9
is asnp
is mentioned by
dbSNPrs59616921
dbSNP (classic)rs59616921
ClinGenrs59616921
ebirs59616921
HLIrs59616921
Exacrs59616921
Gnomadrs59616921
Varsomers59616921
LitVarrs59616921
Maprs59616921
PheGenIrs59616921
Biobankrs59616921
1000 genomesrs59616921
hgdprs59616921
ensemblrs59616921
geneviewrs59616921
scholarrs59616921
googlers59616921
pharmgkbrs59616921
gwascentralrs59616921
openSNPrs59616921
23andMers59616921
SNPshotrs59616921
SNPdbers59616921
MSV3drs59616921
GWAS Ctlgrs59616921
Max Magnitude0
OMIM607606
Desc
Variant0001
Relatedalso


ClinVar
Risk rs59616921(T;T)
Alt rs59616921(T;T)
Reference Rs59616921(C;C)
Significance Pathogenic
Disease Epidermolytic palmoplantar keratoderma Palmoplantar keratoderma not provided
Variation info
Gene KRT9
CLNDBN Epidermolytic palmoplantar keratoderma Palmoplantar keratoderma, epidermolytic, with knuckle pads not provided
Reversed 1
HGVS NC_000017.10:g.39727758G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003132.2, RCV000003133.2, RCV000056465.2,