rs281865117

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

13

Position

23335032

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs281865117
dbSNP (classic)	rs281865117
ClinGen	rs281865117
ebi	rs281865117
HLI	rs281865117
Exac	rs281865117
Gnomad	rs281865117
Varsome	rs281865117
LitVar	rs281865117
Map	rs281865117
PheGenI	rs281865117
Biobank	rs281865117
1000 genomes	rs281865117
hgdp	rs281865117
ensembl	rs281865117
geneview	rs281865117
scholar	rs281865117
google	rs281865117
pharmgkb	rs281865117
gwascentral	rs281865117
openSNP	rs281865117
23andMe	rs281865117
SNPshot	rs281865117
SNPdbe	rs281865117
MSV3d	rs281865117
GWAS Ctlg	rs281865117

Max Magnitude

6

c.8844delT (p.Ile2949Phefs)

23andMe name: i5012578

ClinVar
Risk	Rs281865117(-;-)
Alt	Rs281865117(-;-)
Reference	Rs281865117(T;T)
Significance	Pathogenic
Disease	Spastic ataxia Charlevoix-Saguenay type not provided Spastic paraplegia
Variation	info
Gene	SACS
CLNDBN	Spastic ataxia Charlevoix-Saguenay type not provided Spastic paraplegia
Reversed	1
HGVS	NC_000013.10:g.23909171delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005847.4, RCV000338359.1, RCV000460039.1,

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