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rs58293603

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
Chromosome17
Position41612318
GeneKRT16
is asnp
is mentioned by
dbSNPrs58293603
ebirs58293603
HLIrs58293603
Exacrs58293603
Varsomers58293603
Maprs58293603
PheGenIrs58293603
hapmaprs58293603
1000 genomesrs58293603
hgdprs58293603
ensemblrs58293603
gopubmedrs58293603
geneviewrs58293603
scholarrs58293603
googlers58293603
pharmgkbrs58293603
gwascentralrs58293603
openSNPrs58293603
23andMers58293603
23andMe allrs58293603
SNP Nexus

SNPshotrs58293603
SNPdbers58293603
MSV3drs58293603
GWAS Ctlgrs58293603
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 148067.0007

OMIM148067
Desc
Variant0007
Relatedalso


ClinVar
Risk rs58293603(A,C,G;A,C,G)
Alt rs58293603(A,C,G;A,C,G)
Reference rs58293603(T;T)
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.39768570A>C; NC_000017.10:g.39768570A>G; NC_000017.10:g.39768570A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015710.27, RCV000057034.1, RCV000057033.1, RCV000057032.1,