rs1057517294

Orientation

minus

Stabilized

minus

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

Make rs1057517294(-;-)

Make rs1057517294(-;AAGAA)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23330949

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517294
dbSNP (classic)	rs1057517294
ClinGen	rs1057517294
ebi	rs1057517294
HLI	rs1057517294
Exac	rs1057517294
Gnomad	rs1057517294
Varsome	rs1057517294
LitVar	rs1057517294
Map	rs1057517294
PheGenI	rs1057517294
Biobank	rs1057517294
1000 genomes	rs1057517294
hgdp	rs1057517294
ensembl	rs1057517294
geneview	rs1057517294
scholar	rs1057517294
google	rs1057517294
pharmgkb	rs1057517294
gwascentral	rs1057517294
openSNP	rs1057517294
23andMe	rs1057517294
SNPshot	rs1057517294
SNPdbe	rs1057517294
MSV3d	rs1057517294
GWAS Ctlg	rs1057517294

Max Magnitude

0

ClinVar
Risk	rs1057517294(-;-)
Alt	rs1057517294(-;-)
Reference	Rs1057517294(AAGAA;AAGAA)
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.23905088_23905092delTTCTT
CLNSRC
CLNACC	RCV000409460.1,