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rs1060502838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060502838(A;G)
Make rs1060502838(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position30621448
GeneGARS
is asnp
is mentioned by
dbSNPrs1060502838
dbSNP (old)rs1060502838
ClinGenrs1060502838
ebirs1060502838
HLIrs1060502838
Exacrs1060502838
Gnomadrs1060502838
Varsomers1060502838
LitVarrs1060502838
Maprs1060502838
PheGenIrs1060502838
Biobankrs1060502838
1000 genomesrs1060502838
hgdprs1060502838
ensemblrs1060502838
gopubmedrs1060502838
geneviewrs1060502838
scholarrs1060502838
googlers1060502838
pharmgkbrs1060502838
gwascentralrs1060502838
openSNPrs1060502838
23andMers1060502838
23andMe allrs1060502838
SNPshotrs1060502838
SNPdbers1060502838
MSV3drs1060502838
GWAS Ctlgrs1060502838
Max Magnitude0
ClinVar
Risk rs1060502838(G;G)
Alt rs1060502838(G;G)
Reference Rs1060502838(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene GARS
CLNDBN Charcot-Marie-Tooth disease, type 2
Reversed 0
HGVS NC_000007.13:g.30661064A>G
CLNSRC
CLNACC RCV000459084.1,