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rs137852645

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852645(A;G)
Make rs137852645(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position30599996
GeneGARS
is asnp
is mentioned by
dbSNPrs137852645
ebirs137852645
HLIrs137852645
Exacrs137852645
Varsomers137852645
Maprs137852645
PheGenIrs137852645
hapmaprs137852645
1000 genomesrs137852645
hgdprs137852645
ensemblrs137852645
gopubmedrs137852645
geneviewrs137852645
scholarrs137852645
googlers137852645
pharmgkbrs137852645
gwascentralrs137852645
openSNPrs137852645
23andMers137852645
23andMe allrs137852645
SNP Nexus

SNPshotrs137852645
SNPdbers137852645
MSV3drs137852645
GWAS Ctlgrs137852645
Merged fromRs28936972
Max Magnitude0
OMIM600287
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852645(G;G)
Alt rs137852645(G;G)
Reference rs137852645(A;A)
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.30639612A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009784.4, RCV000009785.4,