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rs587776691

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(AGT;AGT) 0 common in clinvar
(CT;CT) 0 common in clinvar
Make rs587776691(-;-)
Make rs587776691(-;CT)
ReferenceGRCh38 38.1/142
Chromosome17
Position15260708
GenePMP22
is asnp
is mentioned by
dbSNPrs587776691
dbSNP (classic)rs587776691
ClinGenrs587776691
ebirs587776691
HLIrs587776691
Exacrs587776691
Gnomadrs587776691
Varsomers587776691
LitVarrs587776691
Maprs587776691
PheGenIrs587776691
Biobankrs587776691
1000 genomesrs587776691
hgdprs587776691
ensemblrs587776691
geneviewrs587776691
scholarrs587776691
googlers587776691
pharmgkbrs587776691
gwascentralrs587776691
openSNPrs587776691
23andMers587776691
SNPshotrs587776691
SNPdbers587776691
MSV3drs587776691
GWAS Ctlgrs587776691
Max Magnitude0
ClinVar
Risk Rs587776691(CT;CT) rs587776691(-;-)
Alt Rs587776691(CT;CT) rs587776691(-;-)
Reference Rs587776691(AG;AG)
Significance Pathogenic
Disease Hereditary liability to pressure palsies
Variation info
Gene PMP22
CLNDBN Hereditary liability to pressure palsies
Reversed 1
HGVS NC_000017.10:g.15164025_15164026delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000008950.5,