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rs1060500978

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500978(-;-)
Make rs1060500978(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position74364076
GeneGDAP1
is asnp
is mentioned by
dbSNPrs1060500978
dbSNP (old)rs1060500978
ClinGenrs1060500978
ebirs1060500978
HLIrs1060500978
Exacrs1060500978
Gnomadrs1060500978
Varsomers1060500978
Maprs1060500978
PheGenIrs1060500978
Biobankrs1060500978
1000 genomesrs1060500978
hgdprs1060500978
ensemblrs1060500978
gopubmedrs1060500978
geneviewrs1060500978
scholarrs1060500978
googlers1060500978
pharmgkbrs1060500978
gwascentralrs1060500978
openSNPrs1060500978
23andMers1060500978
23andMe allrs1060500978
SNPshotrs1060500978
SNPdbers1060500978
MSV3drs1060500978
GWAS Ctlgrs1060500978
Max Magnitude0
ClinVar
Risk rs1060500978(-;-)
Alt rs1060500978(-;-)
Reference Rs1060500978(G;G)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease, type 4A not provided
Reversed 0
HGVS NC_000008.10:g.75276311delG
CLNSRC
CLNACC RCV000456890.1, RCV000479637.1,