rs137853019

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

23340715

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs137853019
dbSNP (classic)	rs137853019
ClinGen	rs137853019
ebi	rs137853019
HLI	rs137853019
Exac	rs137853019
Gnomad	rs137853019
Varsome	rs137853019
LitVar	rs137853019
Map	rs137853019
PheGenI	rs137853019
Biobank	rs137853019
1000 genomes	rs137853019
hgdp	rs137853019
ensembl	rs137853019
geneview	rs137853019
scholar	rs137853019
google	rs137853019
pharmgkb	rs137853019
gwascentral	rs137853019
openSNP	rs137853019
23andMe	rs137853019
SNPshot	rs137853019
SNPdbe	rs137853019
MSV3d	rs137853019
GWAS Ctlg	rs137853019

Max Magnitude

6

OMIM	604490
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs137853019(C;C)
Alt	Rs137853019(C;C)
Reference	Rs137853019(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.23914854A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005855.3,