rs1057517349

Orientation

minus

Stabilized

minus

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

Make rs1057517349(-;-)

Make rs1057517349(-;TA)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23334485

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517349
dbSNP (classic)	rs1057517349
ClinGen	rs1057517349
ebi	rs1057517349
HLI	rs1057517349
Exac	rs1057517349
Gnomad	rs1057517349
Varsome	rs1057517349
LitVar	rs1057517349
Map	rs1057517349
PheGenI	rs1057517349
Biobank	rs1057517349
1000 genomes	rs1057517349
hgdp	rs1057517349
ensembl	rs1057517349
geneview	rs1057517349
scholar	rs1057517349
google	rs1057517349
pharmgkb	rs1057517349
gwascentral	rs1057517349
openSNP	rs1057517349
23andMe	rs1057517349
SNPshot	rs1057517349
SNPdbe	rs1057517349
MSV3d	rs1057517349
GWAS Ctlg	rs1057517349

Max Magnitude

0

ClinVar
Risk	rs1057517349(-;-)
Alt	rs1057517349(-;-)
Reference	Rs1057517349(TA;TA)
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.23908624_23908625delTA
CLNSRC
CLNACC	RCV000410981.1,