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rs281865117

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 6 neurodegenerative disorder (ARSACS)
(-;T) 4 carrier of a neurodegenerative disorder (ARSACS) mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome13
Position23335032
GeneSACS
is asnp
is mentioned by
dbSNPrs281865117
ebirs281865117
HLIrs281865117
Exacrs281865117
Varsomers281865117
Maprs281865117
PheGenIrs281865117
hapmaprs281865117
1000 genomesrs281865117
hgdprs281865117
ensemblrs281865117
gopubmedrs281865117
geneviewrs281865117
scholarrs281865117
googlers281865117
pharmgkbrs281865117
gwascentralrs281865117
openSNPrs281865117
23andMers281865117
23andMe allrs281865117
SNP Nexus

SNPshotrs281865117
SNPdbers281865117
MSV3drs281865117
GWAS Ctlgrs281865117
Max Magnitude6
ClinVar
Risk rs281865117(;)
Alt rs281865117(;)
Reference rs281865117(T;T)
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.23909171delA
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000005847.4,


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