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rs863225029

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 6.1 Charcot-Marie-Tooth Disease, type 1
(T;T) 0 common in clinvar


Make rs863225029(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position15230966
GenePMP22
is asnp
is mentioned by
dbSNPrs863225029
dbSNP (classic)rs863225029
ClinGenrs863225029
ebirs863225029
HLIrs863225029
Exacrs863225029
Gnomadrs863225029
Varsomers863225029
LitVarrs863225029
Maprs863225029
PheGenIrs863225029
Biobankrs863225029
1000 genomesrs863225029
hgdprs863225029
ensemblrs863225029
geneviewrs863225029
scholarrs863225029
googlers863225029
pharmgkbrs863225029
gwascentralrs863225029
openSNPrs863225029
23andMers863225029
SNPshotrs863225029
SNPdbers863225029
MSV3drs863225029
GWAS Ctlgrs863225029
Max Magnitude6.1
ClinVar
Risk rs863225029(-;-)
Alt rs863225029(-;-)
Reference Rs863225029(T;T)
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.15134283delA
CLNSRC Quest Diagnostics
CLNACC RCV000201019.1,