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rs59349773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 normal
(A;C) 3 heterozygote for pachyonychia congenita Type I mutation
(C;C) 3 homozygote for pachyonychia congenita Type I mutation
ReferenceGRCh38 38.1/141
Chromosome17
Position41612324
GeneKRT16
is asnp
is mentioned by
dbSNPrs59349773
ebirs59349773
HLIrs59349773
Exacrs59349773
Varsomers59349773
Maprs59349773
PheGenIrs59349773
hapmaprs59349773
1000 genomesrs59349773
hgdprs59349773
ensemblrs59349773
gopubmedrs59349773
geneviewrs59349773
scholarrs59349773
googlers59349773
pharmgkbrs59349773
gwascentralrs59349773
openSNPrs59349773
23andMers59349773
23andMe allrs59349773
SNP Nexus

SNPshotrs59349773
SNPdbers59349773
MSV3drs59349773
GWAS Ctlgrs59349773
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 148067.0006

OMIM148067
Desc
Variant0006
Relatedalso


ClinVar
Risk rs59349773(C;C)
Alt rs59349773(C;C)
Reference rs59349773(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.39768576T>C; NC_000017.10:g.39768576T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000198279.1, RCV000015709.27, RCV000057031.1,