rs281865118

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	carrier of a neurodegenerative disorder (ARSACS) mutation
(T;T)	6	neurodegenerative disorder (ARSACS)

Reference

GRCh38 38.1/141

Chromosome

13

Position

23336372

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs281865118
dbSNP (classic)	rs281865118
ClinGen	rs281865118
ebi	rs281865118
HLI	rs281865118
Exac	rs281865118
Gnomad	rs281865118
Varsome	rs281865118
LitVar	rs281865118
Map	rs281865118
PheGenI	rs281865118
Biobank	rs281865118
1000 genomes	rs281865118
hgdp	rs281865118
ensembl	rs281865118
geneview	rs281865118
scholar	rs281865118
google	rs281865118
pharmgkb	rs281865118
gwascentral	rs281865118
openSNP	rs281865118
23andMe	rs281865118
SNPshot	rs281865118
SNPdbe	rs281865118
MSV3d	rs281865118
GWAS Ctlg	rs281865118

Max Magnitude

6

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.