rs137853016

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

13

Position

23331656

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs137853016
dbSNP (classic)	rs137853016
ClinGen	rs137853016
ebi	rs137853016
HLI	rs137853016
Exac	rs137853016
Gnomad	rs137853016
Varsome	rs137853016
LitVar	rs137853016
Map	rs137853016
PheGenI	rs137853016
Biobank	rs137853016
1000 genomes	rs137853016
hgdp	rs137853016
ensembl	rs137853016
geneview	rs137853016
scholar	rs137853016
google	rs137853016
pharmgkb	rs137853016
gwascentral	rs137853016
openSNP	rs137853016
23andMe	rs137853016
SNPshot	rs137853016
SNPdbe	rs137853016
MSV3d	rs137853016
GWAS Ctlg	rs137853016

Max Magnitude

6

OMIM	604490
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs137853016(C;C)
Alt	Rs137853016(C;C)
Reference	Rs137853016(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.23905795C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005849.3,