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rs762947018

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs762947018(G;T)
Make rs762947018(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position23330903
GeneSACS
is asnp
is mentioned by
dbSNPrs762947018
ebirs762947018
HLIrs762947018
Exacrs762947018
Varsomers762947018
Maprs762947018
PheGenIrs762947018
hapmaprs762947018
1000 genomesrs762947018
hgdprs762947018
ensemblrs762947018
gopubmedrs762947018
geneviewrs762947018
scholarrs762947018
googlers762947018
pharmgkbrs762947018
gwascentralrs762947018
openSNPrs762947018
23andMers762947018
23andMe allrs762947018
SNP Nexus

SNPshotrs762947018
SNPdbers762947018
MSV3drs762947018
GWAS Ctlgrs762947018
Max Magnitude0
ClinVar
Risk rs762947018(A,T;A,T)
Alt rs762947018(A,T;A,T)
Reference rs762947018(G;G)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 0
HGVS NC_000013.10:g.23905042G>A
CLNSRC Counsyl
CLNACC RCV000169272.1,