rs137853018

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

13

Position

23334134

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs137853018
dbSNP (classic)	rs137853018
ClinGen	rs137853018
ebi	rs137853018
HLI	rs137853018
Exac	rs137853018
Gnomad	rs137853018
Varsome	rs137853018
LitVar	rs137853018
Map	rs137853018
PheGenI	rs137853018
Biobank	rs137853018
1000 genomes	rs137853018
hgdp	rs137853018
ensembl	rs137853018
geneview	rs137853018
scholar	rs137853018
google	rs137853018
pharmgkb	rs137853018
gwascentral	rs137853018
openSNP	rs137853018
23andMe	rs137853018
SNPshot	rs137853018
SNPdbe	rs137853018
MSV3d	rs137853018
GWAS Ctlg	rs137853018

Max Magnitude

6

OMIM	604490
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs137853018(C;C)
Alt	Rs137853018(C;C)
Reference	Rs137853018(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.23908273A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005854.3,