rs1057516856

Orientation

minus

Stabilized

minus

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

Make rs1057516856(-;G)

Make rs1057516856(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23332794

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516856
dbSNP (classic)	rs1057516856
ClinGen	rs1057516856
ebi	rs1057516856
HLI	rs1057516856
Exac	rs1057516856
Gnomad	rs1057516856
Varsome	rs1057516856
LitVar	rs1057516856
Map	rs1057516856
PheGenI	rs1057516856
Biobank	rs1057516856
1000 genomes	rs1057516856
hgdp	rs1057516856
ensembl	rs1057516856
geneview	rs1057516856
scholar	rs1057516856
google	rs1057516856
pharmgkb	rs1057516856
gwascentral	rs1057516856
openSNP	rs1057516856
23andMe	rs1057516856
SNPshot	rs1057516856
SNPdbe	rs1057516856
MSV3d	rs1057516856
GWAS Ctlg	rs1057516856

Max Magnitude

0

ClinVar
Risk	rs1057516856(G;G)
Alt	rs1057516856(G;G)
Reference	Rs1057516856(-;-)
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.23906934dupC
CLNSRC
CLNACC	RCV000410800.1,