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rs28928898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28928898(C;C)
Make rs28928898(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41624247
GeneKRT17
is asnp
is mentioned by
dbSNPrs28928898
ebirs28928898
HLIrs28928898
Exacrs28928898
Varsomers28928898
Maprs28928898
PheGenIrs28928898
hapmaprs28928898
1000 genomesrs28928898
hgdprs28928898
ensemblrs28928898
gopubmedrs28928898
geneviewrs28928898
scholarrs28928898
googlers28928898
pharmgkbrs28928898
gwascentralrs28928898
openSNPrs28928898
23andMers28928898
23andMe allrs28928898
SNP Nexus

SNPshotrs28928898
SNPdbers28928898
MSV3drs28928898
GWAS Ctlgrs28928898
Max Magnitude0
OMIM148069
DescPACHYONYCHIA CONGENITA, TYPE 2
Variant0007
Relatedalso
Neighborrs28928896
Distance11


ClinVar
Risk rs28928898(A,C;A,C)
Alt rs28928898(A,C;A,C)
Reference rs28928898(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.39780499A>G; NC_000017.10:g.39780499A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015696.26, RCV000056508.1, RCV000056507.1,