rs137853017

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

23338040

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs137853017
dbSNP (classic)	rs137853017
ClinGen	rs137853017
ebi	rs137853017
HLI	rs137853017
Exac	rs137853017
Gnomad	rs137853017
Varsome	rs137853017
LitVar	rs137853017
Map	rs137853017
PheGenI	rs137853017
Biobank	rs137853017
1000 genomes	rs137853017
hgdp	rs137853017
ensembl	rs137853017
geneview	rs137853017
scholar	rs137853017
google	rs137853017
pharmgkb	rs137853017
gwascentral	rs137853017
openSNP	rs137853017
23andMe	rs137853017
SNPshot	rs137853017
SNPdbe	rs137853017
MSV3d	rs137853017
GWAS Ctlg	rs137853017

Max Magnitude

6

OMIM	604490
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs137853017(C;C)
Alt	Rs137853017(C;C)
Reference	Rs137853017(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.23912179A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005852.3,