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

rs137852648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852648(C;T)
Make rs137852648(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position30612107
GeneGARS
is asnp
is mentioned by
dbSNPrs137852648
ebirs137852648
HLIrs137852648
Exacrs137852648
Varsomers137852648
Maprs137852648
PheGenIrs137852648
hapmaprs137852648
1000 genomesrs137852648
hgdprs137852648
ensemblrs137852648
gopubmedrs137852648
geneviewrs137852648
scholarrs137852648
googlers137852648
pharmgkbrs137852648
gwascentralrs137852648
openSNPrs137852648
23andMers137852648
23andMe allrs137852648
SNP Nexus

SNPshotrs137852648
SNPdbers137852648
MSV3drs137852648
GWAS Ctlgrs137852648
Max Magnitude0
OMIM600287
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852648(T;T)
Alt rs137852648(T;T)
Reference rs137852648(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2D
Variation info
Gene GARS
CLNDBN Charcot-Marie-Tooth disease type 2D
Reversed 0
HGVS NC_000007.13:g.30651723C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009789.4,