Have questions? Visit https://www.reddit.com/r/SNPedia

rs59328451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 normal
(A;T) 3 heterozygote for pachyonychia congenita Type I mutation
(T;T) 3 homozygote for pachyonychia congenita Type I mutation
ReferenceGRCh38 38.1/141
Chromosome17
Position41610549
GeneKRT16
is asnp
is mentioned by
dbSNPrs59328451
ebirs59328451
HLIrs59328451
Exacrs59328451
Varsomers59328451
Maprs59328451
PheGenIrs59328451
hapmaprs59328451
1000 genomesrs59328451
hgdprs59328451
ensemblrs59328451
gopubmedrs59328451
geneviewrs59328451
scholarrs59328451
googlers59328451
pharmgkbrs59328451
gwascentralrs59328451
openSNPrs59328451
23andMers59328451
23andMe allrs59328451
SNP Nexus

SNPshotrs59328451
SNPdbers59328451
MSV3drs59328451
GWAS Ctlgrs59328451
GMAF0.0004591
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 148067.0008

OMIM148067
Desc
Variant0008
Relatedalso


ClinVar
Risk rs59328451(T;T)
Alt rs59328451(T;T)
Reference rs59328451(A;A)
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.39766801T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015711.27, RCV000057025.1,