rs1057516285

Orientation

minus

Stabilized

minus

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

Make rs1057516285(-;-)

Make rs1057516285(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23339116

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516285
dbSNP (classic)	rs1057516285
ClinGen	rs1057516285
ebi	rs1057516285
HLI	rs1057516285
Exac	rs1057516285
Gnomad	rs1057516285
Varsome	rs1057516285
LitVar	rs1057516285
Map	rs1057516285
PheGenI	rs1057516285
Biobank	rs1057516285
1000 genomes	rs1057516285
hgdp	rs1057516285
ensembl	rs1057516285
geneview	rs1057516285
scholar	rs1057516285
google	rs1057516285
pharmgkb	rs1057516285
gwascentral	rs1057516285
openSNP	rs1057516285
23andMe	rs1057516285
SNPshot	rs1057516285
SNPdbe	rs1057516285
MSV3d	rs1057516285
GWAS Ctlg	rs1057516285

Max Magnitude

0

ClinVar
Risk	rs1057516285(-;-)
Alt	rs1057516285(-;-)
Reference	Rs1057516285(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.23913255delT
CLNSRC
CLNACC	RCV000409566.1,