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rs137852644

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852644(C;C)
Make rs137852644(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position30601179
GeneGARS
is asnp
is mentioned by
dbSNPrs137852644
ebirs137852644
HLIrs137852644
Exacrs137852644
Varsomers137852644
Maprs137852644
PheGenIrs137852644
hapmaprs137852644
1000 genomesrs137852644
hgdprs137852644
ensemblrs137852644
gopubmedrs137852644
geneviewrs137852644
scholarrs137852644
googlers137852644
pharmgkbrs137852644
gwascentralrs137852644
openSNPrs137852644
23andMers137852644
23andMe allrs137852644
SNP Nexus

SNPshotrs137852644
SNPdbers137852644
MSV3drs137852644
GWAS Ctlgrs137852644
Max Magnitude0
OMIM600287
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852644(C;C)
Alt rs137852644(C;C)
Reference rs137852644(T;T)
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.30640795T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009783.4,