rs281865120

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs281865120(C;T)

Make rs281865120(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

23331716

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs281865120
dbSNP (classic)	rs281865120
ClinGen	rs281865120
ebi	rs281865120
HLI	rs281865120
Exac	rs281865120
Gnomad	rs281865120
Varsome	rs281865120
LitVar	rs281865120
Map	rs281865120
PheGenI	rs281865120
Biobank	rs281865120
1000 genomes	rs281865120
hgdp	rs281865120
ensembl	rs281865120
geneview	rs281865120
scholar	rs281865120
google	rs281865120
pharmgkb	rs281865120
gwascentral	rs281865120
openSNP	rs281865120
23andMe	rs281865120
SNPshot	rs281865120
SNPdbe	rs281865120
MSV3d	rs281865120
GWAS Ctlg	rs281865120

Max Magnitude

0

ClinVar
Risk	rs281865120(T;T)
Alt	rs281865120(T;T)
Reference	Rs281865120(C;C)
Significance	Pathogenic
Disease	Spastic ataxia Charlevoix-Saguenay type not provided
Variation	info
Gene	SACS
CLNDBN	Spastic ataxia Charlevoix-Saguenay type not provided
Reversed	1
HGVS	NC_000013.10:g.23905855G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032008.1, RCV000487627.1,

[PMID 18465152] ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.