rs1057516347

Orientation

minus

Stabilized

minus

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

Make rs1057516347(-;-)

Make rs1057516347(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23331336

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516347
dbSNP (classic)	rs1057516347
ClinGen	rs1057516347
ebi	rs1057516347
HLI	rs1057516347
Exac	rs1057516347
Gnomad	rs1057516347
Varsome	rs1057516347
LitVar	rs1057516347
Map	rs1057516347
PheGenI	rs1057516347
Biobank	rs1057516347
1000 genomes	rs1057516347
hgdp	rs1057516347
ensembl	rs1057516347
geneview	rs1057516347
scholar	rs1057516347
google	rs1057516347
pharmgkb	rs1057516347
gwascentral	rs1057516347
openSNP	rs1057516347
23andMe	rs1057516347
SNPshot	rs1057516347
SNPdbe	rs1057516347
MSV3d	rs1057516347
GWAS Ctlg	rs1057516347

Max Magnitude

0

ClinVar
Risk	rs1057516347(-;-)
Alt	rs1057516347(-;-)
Reference	Rs1057516347(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.23905475delT
CLNSRC
CLNACC	RCV000412310.1,