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rs28933087

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(G;G) 3 homozygote for pachyonychia congenita Type I mutation
(G;T) 3 heterozygote for pachyonychia congenita Type I mutation
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome12
Position52492669
GeneKRT6A
is asnp
is mentioned by
dbSNPrs28933087
ebirs28933087
HLIrs28933087
Exacrs28933087
Varsomers28933087
Maprs28933087
PheGenIrs28933087
hapmaprs28933087
1000 genomesrs28933087
hgdprs28933087
ensemblrs28933087
gopubmedrs28933087
geneviewrs28933087
scholarrs28933087
googlers28933087
pharmgkbrs28933087
gwascentralrs28933087
openSNPrs28933087
23andMers28933087
23andMe allrs28933087
SNP Nexus

SNPshotrs28933087
SNPdbers28933087
MSV3drs28933087
GWAS Ctlgrs28933087
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 148041.0002

OMIM148041
Desc
Variant0002
Relatedalso


ClinVar
Risk rs28933087(C,G;C,G)
Alt rs28933087(C,G;C,G)
Reference rs28933087(T;T)
Significance Pathogenic
Disease PC-K6a not provided
Variation info
Gene KRT6A
CLNDBN PC-K6a not provided
Reversed 1
HGVS NC_000012.11:g.52886453A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015741.27, RCV000057013.1,