rs1057516554

Orientation

minus

Stabilized

minus

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

Make rs1057516554(A;G)

Make rs1057516554(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23341692

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516554
dbSNP (classic)	rs1057516554
ClinGen	rs1057516554
ebi	rs1057516554
HLI	rs1057516554
Exac	rs1057516554
Gnomad	rs1057516554
Varsome	rs1057516554
LitVar	rs1057516554
Map	rs1057516554
PheGenI	rs1057516554
Biobank	rs1057516554
1000 genomes	rs1057516554
hgdp	rs1057516554
ensembl	rs1057516554
geneview	rs1057516554
scholar	rs1057516554
google	rs1057516554
pharmgkb	rs1057516554
gwascentral	rs1057516554
openSNP	rs1057516554
23andMe	rs1057516554
SNPshot	rs1057516554
SNPdbe	rs1057516554
MSV3d	rs1057516554
GWAS Ctlg	rs1057516554

Max Magnitude

0

ClinVar
Risk	rs1057516554(G;G)
Alt	rs1057516554(G;G)
Reference	Rs1057516554(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.23915831T>C
CLNSRC
CLNACC	RCV000410645.1,