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rs281865119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865119(A;A)
Make rs281865119(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position23332969
GeneSACS
is asnp
is mentioned by
dbSNPrs281865119
ebirs281865119
HLIrs281865119
Exacrs281865119
Varsomers281865119
Maprs281865119
PheGenIrs281865119
hapmaprs281865119
1000 genomesrs281865119
hgdprs281865119
ensemblrs281865119
gopubmedrs281865119
geneviewrs281865119
scholarrs281865119
googlers281865119
pharmgkbrs281865119
gwascentralrs281865119
openSNPrs281865119
23andMers281865119
23andMe allrs281865119
SNP Nexus

SNPshotrs281865119
SNPdbers281865119
MSV3drs281865119
GWAS Ctlgrs281865119
Max Magnitude0
ClinVar
Risk rs281865119(A;A)
Alt rs281865119(A;A)
Reference rs281865119(G;G)
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.23907108C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032007.1,


[PMID 20876471] Mutations in SACS cause atypical and late-onset forms of ARSACS.