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rs864622678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs864622678(GG;T)
Make rs864622678(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position15239509
GenePMP22
is asnp
is mentioned by
dbSNPrs864622678
dbSNP (classic)rs864622678
ClinGenrs864622678
ebirs864622678
HLIrs864622678
Exacrs864622678
Gnomadrs864622678
Varsomers864622678
LitVarrs864622678
Maprs864622678
PheGenIrs864622678
Biobankrs864622678
1000 genomesrs864622678
hgdprs864622678
ensemblrs864622678
geneviewrs864622678
scholarrs864622678
googlers864622678
pharmgkbrs864622678
gwascentralrs864622678
openSNPrs864622678
23andMers864622678
SNPshotrs864622678
SNPdbers864622678
MSV3drs864622678
GWAS Ctlgrs864622678
Max Magnitude0
ClinVar
Risk rs864622678(T;T)
Alt rs864622678(T;T)
Reference Rs864622678(GG;GG)
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.15142826_15142827delCCinsA
CLNSRC
CLNACC RCV000206452.2,