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rs786205112

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205112(-;-)
Make rs786205112(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position15239509
GenePMP22
is asnp
is mentioned by
dbSNPrs786205112
ebirs786205112
HLIrs786205112
Exacrs786205112
Varsomers786205112
Maprs786205112
PheGenIrs786205112
hapmaprs786205112
1000 genomesrs786205112
hgdprs786205112
ensemblrs786205112
gopubmedrs786205112
geneviewrs786205112
scholarrs786205112
googlers786205112
pharmgkbrs786205112
gwascentralrs786205112
openSNPrs786205112
23andMers786205112
23andMe allrs786205112
SNP Nexus

SNPshotrs786205112
SNPdbers786205112
MSV3drs786205112
GWAS Ctlgrs786205112
Max Magnitude0
ClinVar
Risk rs786205112(;)
Alt rs786205112(;)
Reference rs786205112(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene PMP22
CLNDBN Charcot-Marie-Tooth disease, type IA
Reversed 1
HGVS NC_000017.10:g.15142826delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023074.4,