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rs281865120

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865120(C;T)
Make rs281865120(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position23331716
GeneSACS
is asnp
is mentioned by
dbSNPrs281865120
ebirs281865120
HLIrs281865120
Exacrs281865120
Varsomers281865120
Maprs281865120
PheGenIrs281865120
hapmaprs281865120
1000 genomesrs281865120
hgdprs281865120
ensemblrs281865120
gopubmedrs281865120
geneviewrs281865120
scholarrs281865120
googlers281865120
pharmgkbrs281865120
gwascentralrs281865120
openSNPrs281865120
23andMers281865120
23andMe allrs281865120
SNP Nexus

SNPshotrs281865120
SNPdbers281865120
MSV3drs281865120
GWAS Ctlgrs281865120
Max Magnitude0
ClinVar
Risk rs281865120(T;T)
Alt rs281865120(T;T)
Reference rs281865120(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.23905855G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032008.1,


[PMID 18465152OA-icon.png] ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.