rs1057516398

Orientation

minus

Stabilized

minus

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

Make rs1057516398(C;T)

Make rs1057516398(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23332691

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516398
dbSNP (classic)	rs1057516398
ClinGen	rs1057516398
ebi	rs1057516398
HLI	rs1057516398
Exac	rs1057516398
Gnomad	rs1057516398
Varsome	rs1057516398
LitVar	rs1057516398
Map	rs1057516398
PheGenI	rs1057516398
Biobank	rs1057516398
1000 genomes	rs1057516398
hgdp	rs1057516398
ensembl	rs1057516398
geneview	rs1057516398
scholar	rs1057516398
google	rs1057516398
pharmgkb	rs1057516398
gwascentral	rs1057516398
openSNP	rs1057516398
23andMe	rs1057516398
SNPshot	rs1057516398
SNPdbe	rs1057516398
MSV3d	rs1057516398
GWAS Ctlg	rs1057516398

Max Magnitude

0

ClinVar
Risk	rs1057516398(T;T)
Alt	rs1057516398(T;T)
Reference	Rs1057516398(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.23906830G>A
CLNSRC
CLNACC	RCV000409109.1,