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rs57052654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(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
Position52488346
GeneKRT6A
is asnp
is mentioned by
dbSNPrs57052654
ebirs57052654
HLIrs57052654
Exacrs57052654
Varsomers57052654
Maprs57052654
PheGenIrs57052654
hapmaprs57052654
1000 genomesrs57052654
hgdprs57052654
ensemblrs57052654
gopubmedrs57052654
geneviewrs57052654
scholarrs57052654
googlers57052654
pharmgkbrs57052654
gwascentralrs57052654
openSNPrs57052654
23andMers57052654
23andMe allrs57052654
SNP Nexus

SNPshotrs57052654
SNPdbers57052654
MSV3drs57052654
GWAS Ctlgrs57052654
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 148041.0004

OMIM148041
Desc
Variant0004
Relatedalso


ClinVar
Risk rs57052654(C,G;C,G)
Alt rs57052654(C,G;C,G)
Reference rs57052654(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.52882130A>C; NC_000012.11:g.52882130A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015743.23, RCV000056997.1, RCV000056996.1, RCV000144075.2,