rs1057516689

Orientation

minus

Stabilized

minus

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

Make rs1057516689(-;-)

Make rs1057516689(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23336737

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516689
dbSNP (classic)	rs1057516689
ClinGen	rs1057516689
ebi	rs1057516689
HLI	rs1057516689
Exac	rs1057516689
Gnomad	rs1057516689
Varsome	rs1057516689
LitVar	rs1057516689
Map	rs1057516689
PheGenI	rs1057516689
Biobank	rs1057516689
1000 genomes	rs1057516689
hgdp	rs1057516689
ensembl	rs1057516689
geneview	rs1057516689
scholar	rs1057516689
google	rs1057516689
pharmgkb	rs1057516689
gwascentral	rs1057516689
openSNP	rs1057516689
23andMe	rs1057516689
SNPshot	rs1057516689
SNPdbe	rs1057516689
MSV3d	rs1057516689
GWAS Ctlg	rs1057516689

Max Magnitude

0

ClinVar
Risk	rs1057516689(-;-)
Alt	rs1057516689(-;-)
Reference	Rs1057516689(A;A)
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.23910876delT
CLNSRC
CLNACC	RCV000408983.1,