rs1057516543

Orientation

minus

Stabilized

minus

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

Make rs1057516543(-;-)

Make rs1057516543(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23354931

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516543
dbSNP (classic)	rs1057516543
ClinGen	rs1057516543
ebi	rs1057516543
HLI	rs1057516543
Exac	rs1057516543
Gnomad	rs1057516543
Varsome	rs1057516543
LitVar	rs1057516543
Map	rs1057516543
PheGenI	rs1057516543
Biobank	rs1057516543
1000 genomes	rs1057516543
hgdp	rs1057516543
ensembl	rs1057516543
geneview	rs1057516543
scholar	rs1057516543
google	rs1057516543
pharmgkb	rs1057516543
gwascentral	rs1057516543
openSNP	rs1057516543
23andMe	rs1057516543
SNPshot	rs1057516543
SNPdbe	rs1057516543
MSV3d	rs1057516543
GWAS Ctlg	rs1057516543

Max Magnitude

0

ClinVar
Risk	rs1057516543(-;-)
Alt	rs1057516543(-;-)
Reference	Rs1057516543(G;G)
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.23929070delC
CLNSRC
CLNACC	RCV000410889.1,