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rs760730366

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CCCGGGAG) 6.1 Charcot-Marie-Tooth Disease, type 1
(CCCGGGAG;CCCGGGAG) 0 common in clinvar


Make rs760730366(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position161307356
GeneMPZ
is asnp
is mentioned by
dbSNPrs760730366
dbSNP (classic)rs760730366
ClinGenrs760730366
ebirs760730366
HLIrs760730366
Exacrs760730366
Gnomadrs760730366
Varsomers760730366
LitVarrs760730366
Maprs760730366
PheGenIrs760730366
Biobankrs760730366
1000 genomesrs760730366
hgdprs760730366
ensemblrs760730366
geneviewrs760730366
scholarrs760730366
googlers760730366
pharmgkbrs760730366
gwascentralrs760730366
openSNPrs760730366
23andMers760730366
SNPshotrs760730366
SNPdbers760730366
MSV3drs760730366
GWAS Ctlgrs760730366
Max Magnitude6.1
ClinVar
Risk rs760730366(-;-)
Alt rs760730366(-;-)
Reference Rs760730366(CCCGGGAG;CCCGGGAG)
Significance Pathogenic
Disease not provided
Variation info
Gene MPZ
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.161277146_161277153delCCCGGGAG
CLNSRC
CLNACC RCV000235941.2,