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rs1049402

From SNPedia

Orientationplus
Stabilizedplus
Make rs1049402(C;C)
Make rs1049402(C;G)
Make rs1049402(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position30595045
GeneGARS
is asnp
is mentioned by
dbSNPrs1049402
ebirs1049402
HLIrs1049402
Exacrs1049402
Varsomers1049402
Maprs1049402
PheGenIrs1049402
hapmaprs1049402
1000 genomesrs1049402
hgdprs1049402
ensemblrs1049402
gopubmedrs1049402
geneviewrs1049402
scholarrs1049402
googlers1049402
pharmgkbrs1049402
gwascentralrs1049402
openSNPrs1049402
23andMers1049402
23andMe allrs1049402
SNP Nexus

SNPshotrs1049402
SNPdbers1049402
MSV3drs1049402
GWAS Ctlgrs1049402
GMAF0.3343
Max Magnitude
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene GARS
allele G
frequency 0.808
sift TOLERATED
HuRef 1103652534861
Disease Association Defects in GARS are the cause of distal spinal muscular atrophy type V (DSMA-V) (MIM:600794). DSMA-V is an autosomal dominant distal hereditary motor neuropathy (dHMN) with a phenotype similar to CMTD2. The main characteristic that distinguishes these disorders is the less severe distal sensory involvement in DSMA-V patients.


GET Evidence
GARS-P42A
aa_change Pro42Ala
aa_change_short P42A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.743786
summary