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rs28928895

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(A;T) 3 heterozygote for pachyonychia congenita Type I mutation
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome17
Position41612306
GeneKRT16
is asnp
is mentioned by
dbSNPrs28928895
ebirs28928895
HLIrs28928895
Exacrs28928895
Varsomers28928895
Maprs28928895
PheGenIrs28928895
hapmaprs28928895
1000 genomesrs28928895
hgdprs28928895
ensemblrs28928895
gopubmedrs28928895
geneviewrs28928895
scholarrs28928895
googlers28928895
pharmgkbrs28928895
gwascentralrs28928895
openSNPrs28928895
23andMers28928895
23andMe allrs28928895
SNP Nexus

SNPshotrs28928895
SNPdbers28928895
MSV3drs28928895
GWAS Ctlgrs28928895
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 148067.0010

Neighborrs28928894
Distance21
OMIM148067
Desc
Variant0010
Relatedalso


ClinVar
Risk rs28928895(A;A)
Alt rs28928895(A;A)
Reference rs28928895(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.39768558A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015713.23, RCV000057040.1,