rs1057516779

Orientation

minus

Stabilized

minus

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

Make rs1057516779(A;A)

Make rs1057516779(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23339781

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516779
dbSNP (classic)	rs1057516779
ClinGen	rs1057516779
ebi	rs1057516779
HLI	rs1057516779
Exac	rs1057516779
Gnomad	rs1057516779
Varsome	rs1057516779
LitVar	rs1057516779
Map	rs1057516779
PheGenI	rs1057516779
Biobank	rs1057516779
1000 genomes	rs1057516779
hgdp	rs1057516779
ensembl	rs1057516779
geneview	rs1057516779
scholar	rs1057516779
google	rs1057516779
pharmgkb	rs1057516779
gwascentral	rs1057516779
openSNP	rs1057516779
23andMe	rs1057516779
SNPshot	rs1057516779
SNPdbe	rs1057516779
MSV3d	rs1057516779
GWAS Ctlg	rs1057516779

Max Magnitude

0

ClinVar
Risk	rs1057516779(A;A)
Alt	rs1057516779(A;A)
Reference	Rs1057516779(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.23913920C>T
CLNSRC
CLNACC	RCV000412449.1,