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rs786205087

From SNPedia

Orientationminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs786205087(-;-)
Make rs786205087(-;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position15239551
GenePMP22
is asnp
is mentioned by
dbSNPrs786205087
ebirs786205087
HLIrs786205087
Exacrs786205087
Varsomers786205087
Maprs786205087
PheGenIrs786205087
hapmaprs786205087
1000 genomesrs786205087
hgdprs786205087
ensemblrs786205087
gopubmedrs786205087
geneviewrs786205087
scholarrs786205087
googlers786205087
pharmgkbrs786205087
gwascentralrs786205087
openSNPrs786205087
23andMers786205087
23andMe allrs786205087
SNP Nexus

SNPshotrs786205087
SNPdbers786205087
MSV3drs786205087
GWAS Ctlgrs786205087
Max Magnitude0
ClinVar
Risk rs786205087(;)
Alt rs786205087(;)
Reference rs786205087(CT;CT)
Significance Pathogenic
Disease Dejerine-Sottas syndrome
Variation info
Gene PMP22
CLNDBN Dejerine-Sottas syndrome, autosomal dominant
Reversed 1
HGVS NC_000017.10:g.15142868_15142869delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008953.4,