rs1057516773

Orientation

minus

Stabilized

minus

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

Make rs1057516773(-;-)

Make rs1057516773(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23333022

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516773
dbSNP (classic)	rs1057516773
ClinGen	rs1057516773
ebi	rs1057516773
HLI	rs1057516773
Exac	rs1057516773
Gnomad	rs1057516773
Varsome	rs1057516773
LitVar	rs1057516773
Map	rs1057516773
PheGenI	rs1057516773
Biobank	rs1057516773
1000 genomes	rs1057516773
hgdp	rs1057516773
ensembl	rs1057516773
geneview	rs1057516773
scholar	rs1057516773
google	rs1057516773
pharmgkb	rs1057516773
gwascentral	rs1057516773
openSNP	rs1057516773
23andMe	rs1057516773
SNPshot	rs1057516773
SNPdbe	rs1057516773
MSV3d	rs1057516773
GWAS Ctlg	rs1057516773

Max Magnitude

0

ClinVar
Risk	rs1057516773(-;-)
Alt	rs1057516773(-;-)
Reference	Rs1057516773(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.23907161delT
CLNSRC
CLNACC	RCV000410993.1,