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rs797044846

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044846(C;C)
Make rs797044846(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position15259155
GenePMP22
is asnp
is mentioned by
dbSNPrs797044846
dbSNP (classic)rs797044846
ClinGenrs797044846
ebirs797044846
HLIrs797044846
Exacrs797044846
Gnomadrs797044846
Varsomers797044846
LitVarrs797044846
Maprs797044846
PheGenIrs797044846
Biobankrs797044846
1000 genomesrs797044846
hgdprs797044846
ensemblrs797044846
geneviewrs797044846
scholarrs797044846
googlers797044846
pharmgkbrs797044846
gwascentralrs797044846
openSNPrs797044846
23andMers797044846
SNPshotrs797044846
SNPdbers797044846
MSV3drs797044846
GWAS Ctlgrs797044846
Max Magnitude0
ClinVar
Risk rs797044846(A;A) rs797044846(C;C)
Alt rs797044846(A;A) rs797044846(C;C)
Reference Rs797044846(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease and deafness Hereditary liability to pressure palsies
Variation info
Gene PMP22
CLNDBN Charcot-Marie-Tooth disease and deafness Hereditary liability to pressure palsies
Reversed 1
HGVS NC_000017.10:g.15162472C>G; NC_000017.10:g.15162472C>T
CLNSRC
CLNACC RCV000195195.1, RCV000297207.1,