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rs281865118

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865118(C;T)
Make rs281865118(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position23336372
GeneSACS
is asnp
is mentioned by
dbSNPrs281865118
ebirs281865118
HLIrs281865118
Exacrs281865118
Varsomers281865118
Maprs281865118
PheGenIrs281865118
hapmaprs281865118
1000 genomesrs281865118
hgdprs281865118
ensemblrs281865118
gopubmedrs281865118
geneviewrs281865118
scholarrs281865118
googlers281865118
pharmgkbrs281865118
gwascentralrs281865118
openSNPrs281865118
23andMers281865118
23andMe allrs281865118
SNP Nexus

SNPshotrs281865118
SNPdbers281865118
MSV3drs281865118
GWAS Ctlgrs281865118
Max Magnitude0
ClinVar
Risk rs281865118(T;T)
Alt rs281865118(T;T)
Reference rs281865118(C;C)
Significance Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23910511G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005848.5,


[PMID 10655055] ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF.