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rs137852646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852646(C;C)
Make rs137852646(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position30628598
GeneGARS
is asnp
is mentioned by
dbSNPrs137852646
ebirs137852646
HLIrs137852646
Exacrs137852646
Varsomers137852646
Maprs137852646
PheGenIrs137852646
hapmaprs137852646
1000 genomesrs137852646
hgdprs137852646
ensemblrs137852646
gopubmedrs137852646
geneviewrs137852646
scholarrs137852646
googlers137852646
pharmgkbrs137852646
gwascentralrs137852646
openSNPrs137852646
23andMers137852646
23andMe allrs137852646
SNP Nexus

SNPshotrs137852646
SNPdbers137852646
MSV3drs137852646
GWAS Ctlgrs137852646
Max Magnitude0
OMIM600287
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852646(A,C;A,C)
Alt rs137852646(A,C;A,C)
Reference rs137852646(G;G)
Significance Pathogenic
Disease Distal hereditary motor neuronopathy type 5
Variation info
Gene GARS
CLNDBN Distal hereditary motor neuronopathy type 5
Reversed 0
HGVS NC_000007.13:g.30668214G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009786.4,