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rs201358272

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201358272(C;T)
Make rs201358272(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position30632247
GeneGARS
is asnp
is mentioned by
dbSNPrs201358272
ebirs201358272
HLIrs201358272
Exacrs201358272
Varsomers201358272
Maprs201358272
PheGenIrs201358272
hapmaprs201358272
1000 genomesrs201358272
hgdprs201358272
ensemblrs201358272
gopubmedrs201358272
geneviewrs201358272
scholarrs201358272
googlers201358272
pharmgkbrs201358272
gwascentralrs201358272
openSNPrs201358272
23andMers201358272
23andMe allrs201358272
SNP Nexus

SNPshotrs201358272
SNPdbers201358272
MSV3drs201358272
GWAS Ctlgrs201358272
Max Magnitude0
ClinVar
Risk rs201358272(G,T;G,T)
Alt rs201358272(G,T;G,T)
Reference rs201358272(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.30671863C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191089.1,