rs1057516837

Orientation

minus

Stabilized

minus

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

Make rs1057516837(-;-)

Make rs1057516837(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23375261

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516837
dbSNP (classic)	rs1057516837
ClinGen	rs1057516837
ebi	rs1057516837
HLI	rs1057516837
Exac	rs1057516837
Gnomad	rs1057516837
Varsome	rs1057516837
LitVar	rs1057516837
Map	rs1057516837
PheGenI	rs1057516837
Biobank	rs1057516837
1000 genomes	rs1057516837
hgdp	rs1057516837
ensembl	rs1057516837
geneview	rs1057516837
scholar	rs1057516837
google	rs1057516837
pharmgkb	rs1057516837
gwascentral	rs1057516837
openSNP	rs1057516837
23andMe	rs1057516837
SNPshot	rs1057516837
SNPdbe	rs1057516837
MSV3d	rs1057516837
GWAS Ctlg	rs1057516837

Max Magnitude

0

ClinVar
Risk	rs1057516837(-;-)
Alt	rs1057516837(-;-)
Reference	Rs1057516837(C;C)
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.23949400delG
CLNSRC
CLNACC	RCV000409439.1,