rs1057517039

Orientation

minus

Stabilized

minus

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

Make rs1057517039(-;-)

Make rs1057517039(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23340520

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517039
dbSNP (classic)	rs1057517039
ClinGen	rs1057517039
ebi	rs1057517039
HLI	rs1057517039
Exac	rs1057517039
Gnomad	rs1057517039
Varsome	rs1057517039
LitVar	rs1057517039
Map	rs1057517039
PheGenI	rs1057517039
Biobank	rs1057517039
1000 genomes	rs1057517039
hgdp	rs1057517039
ensembl	rs1057517039
geneview	rs1057517039
scholar	rs1057517039
google	rs1057517039
pharmgkb	rs1057517039
gwascentral	rs1057517039
openSNP	rs1057517039
23andMe	rs1057517039
SNPshot	rs1057517039
SNPdbe	rs1057517039
MSV3d	rs1057517039
GWAS Ctlg	rs1057517039

Max Magnitude

0

ClinVar
Risk	rs1057517039(-;-)
Alt	rs1057517039(-;-)
Reference	Rs1057517039(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.23914659delG
CLNSRC
CLNACC	RCV000412109.1,