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rs864622501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864622501(A;A)
Make rs864622501(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position74361979
GeneGDAP1
is asnp
is mentioned by
dbSNPrs864622501
dbSNP (classic)rs864622501
ClinGenrs864622501
ebirs864622501
HLIrs864622501
Exacrs864622501
Gnomadrs864622501
Varsomers864622501
LitVarrs864622501
Maprs864622501
PheGenIrs864622501
Biobankrs864622501
1000 genomesrs864622501
hgdprs864622501
ensemblrs864622501
geneviewrs864622501
scholarrs864622501
googlers864622501
pharmgkbrs864622501
gwascentralrs864622501
openSNPrs864622501
23andMers864622501
SNPshotrs864622501
SNPdbers864622501
MSV3drs864622501
GWAS Ctlgrs864622501
Max Magnitude0
ClinVar
Risk rs864622501(A;A)
Alt rs864622501(A;A)
Reference Rs864622501(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease, type 4A
Reversed 0
HGVS NC_000008.10:g.75274214G>A
CLNSRC
CLNACC RCV000204949.1,