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rs60554162

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 homozygote for pachyonyitia congenita Type I mutation
(A;G) 3 heterozygote for pachyonychia congenita Type I mutation
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome12
Position52488338
GeneKRT6A
is asnp
is mentioned by
dbSNPrs60554162
ebirs60554162
HLIrs60554162
Exacrs60554162
Varsomers60554162
Maprs60554162
PheGenIrs60554162
hapmaprs60554162
1000 genomesrs60554162
hgdprs60554162
ensemblrs60554162
gopubmedrs60554162
geneviewrs60554162
scholarrs60554162
googlers60554162
pharmgkbrs60554162
gwascentralrs60554162
openSNPrs60554162
23andMers60554162
23andMe allrs60554162
SNP Nexus

SNPshotrs60554162
SNPdbers60554162
MSV3drs60554162
GWAS Ctlgrs60554162
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 148041.0003

OMIM148041
Desc
Variant0003
Relatedalso


ClinVar
Risk rs60554162(A;A)
Alt rs60554162(A;A)
Reference rs60554162(G;G)
Significance Pathogenic
Disease PC-K6a not provided
Variation info
Gene KRT6A
CLNDBN PC-K6a not provided
Reversed 1
HGVS NC_000012.11:g.52882122C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015742.27, RCV000056998.1,