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rs137852643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852643(C;C)
Make rs137852643(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position30609729
GeneGARS
is asnp
is mentioned by
dbSNPrs137852643
dbSNP (old)rs137852643
ClinGenrs137852643
ebirs137852643
HLIrs137852643
Exacrs137852643
Gnomadrs137852643
Varsomers137852643
Maprs137852643
PheGenIrs137852643
Biobankrs137852643
1000 genomesrs137852643
hgdprs137852643
ensemblrs137852643
gopubmedrs137852643
geneviewrs137852643
scholarrs137852643
googlers137852643
pharmgkbrs137852643
gwascentralrs137852643
openSNPrs137852643
23andMers137852643
23andMe allrs137852643
SNP Nexus

SNPshotrs137852643
SNPdbers137852643
MSV3drs137852643
GWAS Ctlgrs137852643
Max Magnitude0
OMIM600287
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852643(C;C)
Alt rs137852643(C;C)
Reference Rs137852643(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2D not provided
Variation info
Gene GARS
CLNDBN Charcot-Marie-Tooth disease type 2D not provided
Reversed 0
HGVS NC_000007.13:g.30649345G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009782.4, RCV000327196.1,