Have questions? Visit https://www.reddit.com/r/SNPedia

rs28933089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28933089(C;C)
Make rs28933089(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41624214
GeneKRT17
is asnp
is mentioned by
dbSNPrs28933089
ebirs28933089
HLIrs28933089
Exacrs28933089
Varsomers28933089
Maprs28933089
PheGenIrs28933089
hapmaprs28933089
1000 genomesrs28933089
hgdprs28933089
ensemblrs28933089
gopubmedrs28933089
geneviewrs28933089
scholarrs28933089
googlers28933089
pharmgkbrs28933089
gwascentralrs28933089
openSNPrs28933089
23andMers28933089
23andMe allrs28933089
SNP Nexus

SNPshotrs28933089
SNPdbers28933089
MSV3drs28933089
GWAS Ctlgrs28933089
Max Magnitude0
OMIM148069
DescPACHYONYCHIA CONGENITA, TYPE 2
Variant0013
Relatedalso
Neighborrs28933088
Distance4


ClinVar
Risk rs28933089(C;C)
Alt rs28933089(C;C)
Reference rs28933089(T;T)
Significance Pathogenic
Disease Pachyonychia congenita type 2 not provided
Variation info
Gene KRT17
CLNDBN Pachyonychia congenita type 2 not provided
Reversed 1
HGVS NC_000017.10:g.39780466A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015702.26, RCV000056523.1,