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

rs28933088

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28933088(G;G)
Make rs28933088(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41624218
GeneKRT17
is asnp
is mentioned by
dbSNPrs28933088
ebirs28933088
HLIrs28933088
Exacrs28933088
Varsomers28933088
Maprs28933088
PheGenIrs28933088
hapmaprs28933088
1000 genomesrs28933088
hgdprs28933088
ensemblrs28933088
gopubmedrs28933088
geneviewrs28933088
scholarrs28933088
googlers28933088
pharmgkbrs28933088
gwascentralrs28933088
openSNPrs28933088
23andMers28933088
23andMe allrs28933088
SNP Nexus

SNPshotrs28933088
SNPdbers28933088
MSV3drs28933088
GWAS Ctlgrs28933088
Max Magnitude0
OMIM148069
DescPACHYONYCHIA CONGENITA, TYPE 2
Variant0003
Relatedalso
Neighborrs28933089
Distance4
Neighborrs28928899
Distance8


ClinVar
Risk rs28933088(G;G)
Alt rs28933088(G;G)
Reference rs28933088(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.39780470A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015690.22, RCV000056521.1,