Have questions? Visit https://www.reddit.com/r/SNPedia

rs863225027

From SNPedia

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


Make rs863225027(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position15239555
GenePMP22
is asnp
is mentioned by
dbSNPrs863225027
dbSNP (classic)rs863225027
ClinGenrs863225027
ebirs863225027
HLIrs863225027
Exacrs863225027
Gnomadrs863225027
Varsomers863225027
LitVarrs863225027
Maprs863225027
PheGenIrs863225027
Biobankrs863225027
1000 genomesrs863225027
hgdprs863225027
ensemblrs863225027
geneviewrs863225027
scholarrs863225027
googlers863225027
pharmgkbrs863225027
gwascentralrs863225027
openSNPrs863225027
23andMers863225027
SNPshotrs863225027
SNPdbers863225027
MSV3drs863225027
GWAS Ctlgrs863225027
Max Magnitude6.1
ClinVar
Risk rs863225027(A;A)
Alt rs863225027(A;A)
Reference Rs863225027(T;T)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene PMP22
CLNDBN Charcot-Marie-Tooth disease, type IA
Reversed 1
HGVS NC_000017.10:g.15142872A>T
CLNSRC Quest Diagnostics
CLNACC RCV000201185.1,