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rs58730926

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs58730926(C;T)
Make rs58730926(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41624230
GeneKRT17
is asnp
is mentioned by
dbSNPrs58730926
ebirs58730926
HLIrs58730926
Exacrs58730926
Varsomers58730926
Maprs58730926
PheGenIrs58730926
hapmaprs58730926
1000 genomesrs58730926
hgdprs58730926
ensemblrs58730926
gopubmedrs58730926
geneviewrs58730926
scholarrs58730926
googlers58730926
pharmgkbrs58730926
gwascentralrs58730926
openSNPrs58730926
23andMers58730926
23andMe allrs58730926
SNP Nexus

SNPshotrs58730926
SNPdbers58730926
MSV3drs58730926
GWAS Ctlgrs58730926
Max Magnitude0
OMIM148069
Desc
Variant0006
Relatedalso


ClinVar
Risk rs58730926(T;T)
Alt rs58730926(T;T)
Reference rs58730926(C;C)
Significance Pathogenic
Disease Steatocystoma multiplex not provided Pachyonychia congenita type 2
Variation info
Gene KRT17
CLNDBN Steatocystoma multiplex not provided Pachyonychia congenita type 2
Reversed 1
HGVS NC_000017.10:g.39780482G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015694.26, RCV000056513.1, RCV000114415.2,