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rs59510579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs59510579(C;C)
Make rs59510579(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41571523
GeneKRT9
is asnp
is mentioned by
dbSNPrs59510579
ebirs59510579
HLIrs59510579
Exacrs59510579
Varsomers59510579
Maprs59510579
PheGenIrs59510579
hapmaprs59510579
1000 genomesrs59510579
hgdprs59510579
ensemblrs59510579
gopubmedrs59510579
geneviewrs59510579
scholarrs59510579
googlers59510579
pharmgkbrs59510579
gwascentralrs59510579
openSNPrs59510579
23andMers59510579
23andMe allrs59510579
SNP Nexus

SNPshotrs59510579
SNPdbers59510579
MSV3drs59510579
GWAS Ctlgrs59510579
Max Magnitude0
OMIM607606
Desc
Variant0010
Relatedalso


ClinVar
Risk rs59510579(A,C,G;A,C,G)
Alt rs59510579(A,C,G;A,C,G)
Reference rs59510579(T;T)
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.39727775A>C; NC_000017.10:g.39727775A>G; NC_000017.10:g.39727775A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056456.1, RCV000003142.2, RCV000056455.1, RCV000056454.1,