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rs1049402

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1049402(C;G)
Make rs1049402(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position30595045
GeneGARS
is asnp
is mentioned by
dbSNPrs1049402
dbSNP (old)rs1049402
ClinGenrs1049402
ebirs1049402
HLIrs1049402
Exacrs1049402
Gnomadrs1049402
Varsomers1049402
Maprs1049402
PheGenIrs1049402
Biobankrs1049402
1000 genomesrs1049402
hgdprs1049402
ensemblrs1049402
gopubmedrs1049402
geneviewrs1049402
scholarrs1049402
googlers1049402
pharmgkbrs1049402
gwascentralrs1049402
openSNPrs1049402
23andMers1049402
23andMe allrs1049402
SNPshotrs1049402
SNPdbers1049402
MSV3drs1049402
GWAS Ctlgrs1049402
GMAF0.3343
Max Magnitude0
? (C;C) (C;G) (G;G) 28
ClinVar
Risk rs1049402(G;G) rs1049402(T;T)
Alt rs1049402(G;G) rs1049402(T;T)
Reference Rs1049402(C;C)
Significance Non-pathogenic
Disease not specified Distal spinal muscular atrophy Charcot-Marie-Tooth Peripheral axonal neuropathy
Variation info
Gene GARS
CLNDBN not specified Distal spinal muscular atrophy Charcot-Marie-Tooth, Type 2 Peripheral axonal neuropathy
Reversed 0
HGVS NC_000007.13:g.30634661C>G
CLNSRC
CLNACC RCV000249303.1, RCV000305283.1, RCV000340289.1, RCV000396526.1,