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rs863224873

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224873(A;T)
Make rs863224873(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position30612212
GeneGARS
is asnp
is mentioned by
dbSNPrs863224873
dbSNP (classic)rs863224873
ClinGenrs863224873
ebirs863224873
HLIrs863224873
Exacrs863224873
Gnomadrs863224873
Varsomers863224873
LitVarrs863224873
Maprs863224873
PheGenIrs863224873
Biobankrs863224873
1000 genomesrs863224873
hgdprs863224873
ensemblrs863224873
geneviewrs863224873
scholarrs863224873
googlers863224873
pharmgkbrs863224873
gwascentralrs863224873
openSNPrs863224873
23andMers863224873
SNPshotrs863224873
SNPdbers863224873
MSV3drs863224873
GWAS Ctlgrs863224873
Max Magnitude0
ClinVar
Risk rs863224873(C;C) rs863224873(T;T)
Alt rs863224873(C;C) rs863224873(T;T)
Reference Rs863224873(A;A)
Significance Probable-Pathogenic
Disease not provided Charcot-Marie-Tooth disease type 2D Distal hereditary motor neuronopathy type 5
Variation info
Gene GARS
CLNDBN not provided Charcot-Marie-Tooth disease type 2D Distal hereditary motor neuronopathy type 5
Reversed 0
HGVS NC_000007.13:g.30651828A>C; NC_000007.13:g.30651828A>T
CLNSRC
CLNACC RCV000484050.1, RCV000195583.1,