Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852647(A;A)
Make rs137852647(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position30626280
GeneGARS
is asnp
is mentioned by
dbSNPrs137852647
ebirs137852647
HLIrs137852647
Exacrs137852647
Varsomers137852647
Maprs137852647
PheGenIrs137852647
hapmaprs137852647
1000 genomesrs137852647
hgdprs137852647
ensemblrs137852647
gopubmedrs137852647
geneviewrs137852647
scholarrs137852647
googlers137852647
pharmgkbrs137852647
gwascentralrs137852647
openSNPrs137852647
23andMers137852647
23andMe allrs137852647
SNP Nexus

SNPshotrs137852647
SNPdbers137852647
MSV3drs137852647
GWAS Ctlgrs137852647
Max Magnitude0
OMIM600287
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852647(A;A)
Alt rs137852647(A;A)
Reference rs137852647(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2D Distal hereditary motor neuronopathy type 5
Variation info
Gene GARS
CLNDBN Charcot-Marie-Tooth disease type 2D Distal hereditary motor neuronopathy type 5
Reversed 0
HGVS NC_000007.13:g.30665896G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009787.6, RCV000009788.4,