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rs864622180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864622180(-;-)
Make rs864622180(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position15259134
GenePMP22
is asnp
is mentioned by
dbSNPrs864622180
dbSNP (classic)rs864622180
ClinGenrs864622180
ebirs864622180
HLIrs864622180
Exacrs864622180
Gnomadrs864622180
Varsomers864622180
LitVarrs864622180
Maprs864622180
PheGenIrs864622180
Biobankrs864622180
1000 genomesrs864622180
hgdprs864622180
ensemblrs864622180
geneviewrs864622180
scholarrs864622180
googlers864622180
pharmgkbrs864622180
gwascentralrs864622180
openSNPrs864622180
23andMers864622180
SNPshotrs864622180
SNPdbers864622180
MSV3drs864622180
GWAS Ctlgrs864622180
Max Magnitude0
ClinVar
Risk rs864622180(-;-)
Alt rs864622180(-;-)
Reference Rs864622180(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene PMP22
CLNDBN Charcot-Marie-Tooth disease, type I
Reversed 1
HGVS NC_000017.10:g.15162451delG
CLNSRC
CLNACC RCV000206056.1,