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rs28928894

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(C;C) 3 homozygote for pachyonychia congenita Type I mutation
(C;T) 3 heterozygote for pachyonychia congenita Type I mutation
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome17
Position41612327
GeneKRT16
is asnp
is mentioned by
dbSNPrs28928894
ebirs28928894
HLIrs28928894
Exacrs28928894
Varsomers28928894
Maprs28928894
PheGenIrs28928894
hapmaprs28928894
1000 genomesrs28928894
hgdprs28928894
ensemblrs28928894
gopubmedrs28928894
geneviewrs28928894
scholarrs28928894
googlers28928894
pharmgkbrs28928894
gwascentralrs28928894
openSNPrs28928894
23andMers28928894
23andMe allrs28928894
SNP Nexus

SNPshotrs28928894
SNPdbers28928894
MSV3drs28928894
GWAS Ctlgrs28928894
Max Magnitude3
This SNP has been found in patients with pachyonychia congenita Type I, and the risk allele appears to be a causative mutation for this (dominant) disorder.

See also: OMIM 148067.0009

Neighborrs28928895
Distance21
OMIM148067
Desc
Variant0009
Relatedalso


ClinVar
Risk rs28928894(A,C;A,C)
Alt rs28928894(A,C;A,C)
Reference rs28928894(T;T)
Significance Pathogenic
Disease Pachyonychia congenita not provided
Variation info
Gene KRT16
CLNDBN Pachyonychia congenita, type 1 not provided
Reversed 1
HGVS NC_000017.10:g.39768579A>G; NC_000017.10:g.39768579A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015712.23, RCV000057030.1, RCV000057029.1,