rs1057516820

Orientation

minus

Stabilized

minus

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

Make rs1057516820(-;G)

Make rs1057516820(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23358470

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516820
dbSNP (classic)	rs1057516820
ClinGen	rs1057516820
ebi	rs1057516820
HLI	rs1057516820
Exac	rs1057516820
Gnomad	rs1057516820
Varsome	rs1057516820
LitVar	rs1057516820
Map	rs1057516820
PheGenI	rs1057516820
Biobank	rs1057516820
1000 genomes	rs1057516820
hgdp	rs1057516820
ensembl	rs1057516820
geneview	rs1057516820
scholar	rs1057516820
google	rs1057516820
pharmgkb	rs1057516820
gwascentral	rs1057516820
openSNP	rs1057516820
23andMe	rs1057516820
SNPshot	rs1057516820
SNPdbe	rs1057516820
MSV3d	rs1057516820
GWAS Ctlg	rs1057516820

Max Magnitude

0

ClinVar
Risk	rs1057516820(G;G)
Alt	rs1057516820(G;G)
Reference	Rs1057516820(-;-)
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.23932609_23932610insC
CLNSRC
CLNACC	RCV000409711.1,