rs1057516578

Orientation

minus

Stabilized

minus

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

Make rs1057516578(C;T)

Make rs1057516578(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23333012

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516578
dbSNP (classic)	rs1057516578
ClinGen	rs1057516578
ebi	rs1057516578
HLI	rs1057516578
Exac	rs1057516578
Gnomad	rs1057516578
Varsome	rs1057516578
LitVar	rs1057516578
Map	rs1057516578
PheGenI	rs1057516578
Biobank	rs1057516578
1000 genomes	rs1057516578
hgdp	rs1057516578
ensembl	rs1057516578
geneview	rs1057516578
scholar	rs1057516578
google	rs1057516578
pharmgkb	rs1057516578
gwascentral	rs1057516578
openSNP	rs1057516578
23andMe	rs1057516578
SNPshot	rs1057516578
SNPdbe	rs1057516578
MSV3d	rs1057516578
GWAS Ctlg	rs1057516578

Max Magnitude

0

ClinVar
Risk	rs1057516578(T;T)
Alt	rs1057516578(T;T)
Reference	Rs1057516578(C;C)
Significance	Probable-Pathogenic
Disease	Spastic ataxia Charlevoix-Saguenay type
Variation	info
Gene	SACS
CLNDBN	Spastic ataxia Charlevoix-Saguenay type
Reversed	1
HGVS	NC_000013.10:g.23907151G>A
CLNSRC
CLNACC	RCV000412194.1,