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rs57424749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3 homozygote for pachyonychia congenita Type I mutation
(C;G) 3 heterozygote for pachyonychia congenita Type I mutation
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome17
Position41612309
GeneKRT16
is asnp
is mentioned by
dbSNPrs57424749
ebirs57424749
HLIrs57424749
Exacrs57424749
Varsomers57424749
Maprs57424749
PheGenIrs57424749
hapmaprs57424749
1000 genomesrs57424749
hgdprs57424749
ensemblrs57424749
gopubmedrs57424749
geneviewrs57424749
scholarrs57424749
googlers57424749
pharmgkbrs57424749
gwascentralrs57424749
openSNPrs57424749
23andMers57424749
23andMe allrs57424749
SNP Nexus

SNPshotrs57424749
SNPdbers57424749
MSV3drs57424749
GWAS Ctlgrs57424749
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 148067.0005

OMIM148067
Desc
Variant0005
Relatedalso


ClinVar
Risk rs57424749(A,C;A,C)
Alt rs57424749(A,C;A,C)
Reference rs57424749(G;G)
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.39768561C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015708.23, RCV000057039.1,