rs1057516624

Orientation

minus

Stabilized

minus

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

Make rs1057516624(-;-)

Make rs1057516624(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23341006

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516624
dbSNP (classic)	rs1057516624
ClinGen	rs1057516624
ebi	rs1057516624
HLI	rs1057516624
Exac	rs1057516624
Gnomad	rs1057516624
Varsome	rs1057516624
LitVar	rs1057516624
Map	rs1057516624
PheGenI	rs1057516624
Biobank	rs1057516624
1000 genomes	rs1057516624
hgdp	rs1057516624
ensembl	rs1057516624
geneview	rs1057516624
scholar	rs1057516624
google	rs1057516624
pharmgkb	rs1057516624
gwascentral	rs1057516624
openSNP	rs1057516624
23andMe	rs1057516624
SNPshot	rs1057516624
SNPdbe	rs1057516624
MSV3d	rs1057516624
GWAS Ctlg	rs1057516624

Max Magnitude

0

ClinVar
Risk	rs1057516624(-;-)
Alt	rs1057516624(-;-)
Reference	Rs1057516624(C;C)
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.23915145delG
CLNSRC
CLNACC	RCV000411525.1,