rs1057516625

Orientation

minus

Stabilized

minus

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

Make rs1057516625(-;-)

Make rs1057516625(-;AG)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23355422

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516625
dbSNP (classic)	rs1057516625
ClinGen	rs1057516625
ebi	rs1057516625
HLI	rs1057516625
Exac	rs1057516625
Gnomad	rs1057516625
Varsome	rs1057516625
LitVar	rs1057516625
Map	rs1057516625
PheGenI	rs1057516625
Biobank	rs1057516625
1000 genomes	rs1057516625
hgdp	rs1057516625
ensembl	rs1057516625
geneview	rs1057516625
scholar	rs1057516625
google	rs1057516625
pharmgkb	rs1057516625
gwascentral	rs1057516625
openSNP	rs1057516625
23andMe	rs1057516625
SNPshot	rs1057516625
SNPdbe	rs1057516625
MSV3d	rs1057516625
GWAS Ctlg	rs1057516625

Max Magnitude

0

ClinVar
Risk	rs1057516625(-;-)
Alt	rs1057516625(-;-)
Reference	Rs1057516625(AG;AG)
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.23929561_23929562delCT
CLNSRC
CLNACC	RCV000409079.1,