rs1057517301

Orientation

minus

Stabilized

minus

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

Make rs1057517301(-;-)

Make rs1057517301(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23337072

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517301
dbSNP (classic)	rs1057517301
ClinGen	rs1057517301
ebi	rs1057517301
HLI	rs1057517301
Exac	rs1057517301
Gnomad	rs1057517301
Varsome	rs1057517301
LitVar	rs1057517301
Map	rs1057517301
PheGenI	rs1057517301
Biobank	rs1057517301
1000 genomes	rs1057517301
hgdp	rs1057517301
ensembl	rs1057517301
geneview	rs1057517301
scholar	rs1057517301
google	rs1057517301
pharmgkb	rs1057517301
gwascentral	rs1057517301
openSNP	rs1057517301
23andMe	rs1057517301
SNPshot	rs1057517301
SNPdbe	rs1057517301
MSV3d	rs1057517301
GWAS Ctlg	rs1057517301

Max Magnitude

0

ClinVar
Risk	rs1057517301(-;-)
Alt	rs1057517301(-;-)
Reference	Rs1057517301(T;T)
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.23911211delA
CLNSRC
CLNACC	RCV000411394.1,