rs1057516438

Orientation

minus

Stabilized

minus

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

Make rs1057516438(-;-)

Make rs1057516438(-;AAGA)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23336352

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516438
dbSNP (classic)	rs1057516438
ClinGen	rs1057516438
ebi	rs1057516438
HLI	rs1057516438
Exac	rs1057516438
Gnomad	rs1057516438
Varsome	rs1057516438
LitVar	rs1057516438
Map	rs1057516438
PheGenI	rs1057516438
Biobank	rs1057516438
1000 genomes	rs1057516438
hgdp	rs1057516438
ensembl	rs1057516438
geneview	rs1057516438
scholar	rs1057516438
google	rs1057516438
pharmgkb	rs1057516438
gwascentral	rs1057516438
openSNP	rs1057516438
23andMe	rs1057516438
SNPshot	rs1057516438
SNPdbe	rs1057516438
MSV3d	rs1057516438
GWAS Ctlg	rs1057516438

Max Magnitude

0

ClinVar
Risk	rs1057516438(-;-)
Alt	rs1057516438(-;-)
Reference	Rs1057516438(AAGA;AAGA)
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.23910491_23910494delTCTT
CLNSRC
CLNACC	RCV000410665.1,