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rs140551762

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140551762(G;T)
Make rs140551762(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position23335483
GeneSACS
is asnp
is mentioned by
dbSNPrs140551762
ebirs140551762
HLIrs140551762
Exacrs140551762
Varsomers140551762
Maprs140551762
PheGenIrs140551762
hapmaprs140551762
1000 genomesrs140551762
hgdprs140551762
ensemblrs140551762
gopubmedrs140551762
geneviewrs140551762
scholarrs140551762
googlers140551762
pharmgkbrs140551762
gwascentralrs140551762
openSNPrs140551762
23andMers140551762
23andMe allrs140551762
SNP Nexus

SNPshotrs140551762
SNPdbers140551762
MSV3drs140551762
GWAS Ctlgrs140551762
Max Magnitude0
ClinVar
Risk rs140551762(C,T;C,T)
Alt rs140551762(C,T;C,T)
Reference rs140551762(G;G)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type Spastic paraplegia
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type Spastic paraplegia
Reversed 0
HGVS NC_000013.10:g.23909622G>T
CLNSRC
CLNACC RCV000194652.1, RCV000230214.1,