rs1057516224

Orientation

minus

Stabilized

minus

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

Make rs1057516224(-;-)

Make rs1057516224(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23354536

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516224
dbSNP (classic)	rs1057516224
ClinGen	rs1057516224
ebi	rs1057516224
HLI	rs1057516224
Exac	rs1057516224
Gnomad	rs1057516224
Varsome	rs1057516224
LitVar	rs1057516224
Map	rs1057516224
PheGenI	rs1057516224
Biobank	rs1057516224
1000 genomes	rs1057516224
hgdp	rs1057516224
ensembl	rs1057516224
geneview	rs1057516224
scholar	rs1057516224
google	rs1057516224
pharmgkb	rs1057516224
gwascentral	rs1057516224
openSNP	rs1057516224
23andMe	rs1057516224
SNPshot	rs1057516224
SNPdbe	rs1057516224
MSV3d	rs1057516224
GWAS Ctlg	rs1057516224

Max Magnitude

0

ClinVar
Risk	rs1057516224(-;-)
Alt	rs1057516224(-;-)
Reference	Rs1057516224(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.23928675delG
CLNSRC
CLNACC	RCV000411780.1,