{{Rsnum
|rsid=1049402
|Gene=GARS
|Chromosome=7
|position=30595045
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.3343
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=GARS
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 3.1 | 33.8 | 63.1
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 22.2 | 58.7 | 19.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=1049402
|allele=G
|frequency=0.808
|uid=1103652534861
|type=homozygous_SNP
|hugo=GARS
|ensembl gene=ENSG00000106105
|ensembl transcript=ENST00000265296
|sift=TOLERATED
|disease=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
|gene=GARS
|aa_change=Pro42Ala
|aa_change_short=P42A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1049402
|overall_frequency_n=7182
|overall_frequency_d=9656
|overall_frequency=0.743786
|n_genomes=41
|n_genomes_annotated=0
|n_haplomes=61
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=10
}}