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rs28936682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28936682(C;T)
Make rs28936682(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position15230931
GenePMP22
is asnp
is mentioned by
dbSNPrs28936682
ebirs28936682
HLIrs28936682
Exacrs28936682
Varsomers28936682
Maprs28936682
PheGenIrs28936682
hapmaprs28936682
1000 genomesrs28936682
hgdprs28936682
ensemblrs28936682
gopubmedrs28936682
geneviewrs28936682
scholarrs28936682
googlers28936682
pharmgkbrs28936682
gwascentralrs28936682
openSNPrs28936682
23andMers28936682
23andMe allrs28936682
SNP Nexus

SNPshotrs28936682
SNPdbers28936682
MSV3drs28936682
GWAS Ctlgrs28936682
Max Magnitude0
OMIM601097
DescDEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE
Variant0018
Relatedalso


ClinVar
Risk rs28936682(T;T)
Alt rs28936682(T;T)
Reference rs28936682(C;C)
Significance Pathogenic
Disease Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease and deafness
Variation info
Gene PMP22
CLNDBN Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease and deafness
Reversed 1
HGVS NC_000017.10:g.15134248G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008957.3, RCV000193053.1,