rs1057516294

Orientation

minus

Stabilized

minus

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

Make rs1057516294(-;-)

Make rs1057516294(-;AATGCAA)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23339405

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516294
dbSNP (classic)	rs1057516294
ClinGen	rs1057516294
ebi	rs1057516294
HLI	rs1057516294
Exac	rs1057516294
Gnomad	rs1057516294
Varsome	rs1057516294
LitVar	rs1057516294
Map	rs1057516294
PheGenI	rs1057516294
Biobank	rs1057516294
1000 genomes	rs1057516294
hgdp	rs1057516294
ensembl	rs1057516294
geneview	rs1057516294
scholar	rs1057516294
google	rs1057516294
pharmgkb	rs1057516294
gwascentral	rs1057516294
openSNP	rs1057516294
23andMe	rs1057516294
SNPshot	rs1057516294
SNPdbe	rs1057516294
MSV3d	rs1057516294
GWAS Ctlg	rs1057516294

Max Magnitude

0

ClinVar
Risk	rs1057516294(-;-)
Alt	rs1057516294(-;-)
Reference	Rs1057516294(AATGCAA;AATGCAA)
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.23913544_23913550delTTGCATT
CLNSRC
CLNACC	RCV000409192.1,