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rs863225028

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225028(A;A)
Make rs863225028(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position15231073
GenePMP22
is asnp
is mentioned by
dbSNPrs863225028
ebirs863225028
HLIrs863225028
Exacrs863225028
Varsomers863225028
Maprs863225028
PheGenIrs863225028
hapmaprs863225028
1000 genomesrs863225028
hgdprs863225028
ensemblrs863225028
gopubmedrs863225028
geneviewrs863225028
scholarrs863225028
googlers863225028
pharmgkbrs863225028
gwascentralrs863225028
openSNPrs863225028
23andMers863225028
23andMe allrs863225028
SNP Nexus

SNPshotrs863225028
SNPdbers863225028
MSV3drs863225028
GWAS Ctlgrs863225028
Max Magnitude0
ClinVar
Risk rs863225028(A;A)
Alt rs863225028(A;A)
Reference rs863225028(C;C)
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.15134390G>T
CLNSRC Quest Diagnostics
CLNACC RCV000201146.1,