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rs121912478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCT;CCT) 0 common in clinvar
Make rs121912478(-;-)
Make rs121912478(-;TCC)
Make rs121912478(TCC;TCC)
ReferenceGRCh38 38.1/141
Chromosome17
Position41624219
GeneKRT17
is asnp
is mentioned by
dbSNPrs121912478
ebirs121912478
HLIrs121912478
Exacrs121912478
Varsomers121912478
Maprs121912478
PheGenIrs121912478
hapmaprs121912478
1000 genomesrs121912478
hgdprs121912478
ensemblrs121912478
gopubmedrs121912478
geneviewrs121912478
scholarrs121912478
googlers121912478
pharmgkbrs121912478
gwascentralrs121912478
openSNPrs121912478
23andMers121912478
23andMe allrs121912478
SNP Nexus

SNPshotrs121912478
SNPdbers121912478
MSV3drs121912478
GWAS Ctlgrs121912478
Max Magnitude0
OMIM148069
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912478(;)
Alt rs121912478(;)
Reference rs121912478(CCT;CCT)
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.39780471_39780473delGGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000015701.26, RCV000056520.1,