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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
dbSNP (classic)rs28928895
ClinGenrs28928895
ebirs28928895
HLIrs28928895
Exacrs28928895
Gnomadrs28928895
Varsomers28928895
LitVarrs28928895
Maprs28928895
PheGenIrs28928895
Biobankrs28928895
1000 genomesrs28928895
hgdprs28928895
ensemblrs28928895
geneviewrs28928895
scholarrs28928895
googlers28928895
pharmgkbrs28928895
gwascentralrs28928895
openSNPrs28928895
23andMers28928895
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


OMIM148067
Desc
Variant0010
Relatedalso


ClinVar
Risk Rs28928895(A;A) rs28928895(C;C)
Alt Rs28928895(A;A) rs28928895(C;C)
Reference Rs28928895(T;T)
Significance Pathogenic
Disease not provided Pachyonychia congenita
Variation info
Gene KRT16
CLNDBN not provided Pachyonychia congenita, type 1
Reversed 1
HGVS NC_000017.10:g.39768558A>G; NC_000017.10:g.39768558A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000255090.1, RCV000015713.23, RCV000057040.1,