rs1057517383

Orientation

minus

Stabilized

minus

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

Make rs1057517383(-;-)

Make rs1057517383(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23333786

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517383
dbSNP (classic)	rs1057517383
ClinGen	rs1057517383
ebi	rs1057517383
HLI	rs1057517383
Exac	rs1057517383
Gnomad	rs1057517383
Varsome	rs1057517383
LitVar	rs1057517383
Map	rs1057517383
PheGenI	rs1057517383
Biobank	rs1057517383
1000 genomes	rs1057517383
hgdp	rs1057517383
ensembl	rs1057517383
geneview	rs1057517383
scholar	rs1057517383
google	rs1057517383
pharmgkb	rs1057517383
gwascentral	rs1057517383
openSNP	rs1057517383
23andMe	rs1057517383
SNPshot	rs1057517383
SNPdbe	rs1057517383
MSV3d	rs1057517383
GWAS Ctlg	rs1057517383

Max Magnitude

0

ClinVar
Risk	rs1057517383(-;-)
Alt	rs1057517383(-;-)
Reference	Rs1057517383(G;G)
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.23907925delC
CLNSRC
CLNACC	RCV000410438.1,