rs1057516365

Orientation

minus

Stabilized

minus

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

Make rs1057516365(-;-)

Make rs1057516365(-;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23355383

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516365
dbSNP (classic)	rs1057516365
ClinGen	rs1057516365
ebi	rs1057516365
HLI	rs1057516365
Exac	rs1057516365
Gnomad	rs1057516365
Varsome	rs1057516365
LitVar	rs1057516365
Map	rs1057516365
PheGenI	rs1057516365
Biobank	rs1057516365
1000 genomes	rs1057516365
hgdp	rs1057516365
ensembl	rs1057516365
geneview	rs1057516365
scholar	rs1057516365
google	rs1057516365
pharmgkb	rs1057516365
gwascentral	rs1057516365
openSNP	rs1057516365
23andMe	rs1057516365
SNPshot	rs1057516365
SNPdbe	rs1057516365
MSV3d	rs1057516365
GWAS Ctlg	rs1057516365

Max Magnitude

0

ClinVar
Risk	rs1057516365(-;-)
Alt	rs1057516365(-;-)
Reference	Rs1057516365(TT;TT)
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.23929522_23929523delAA
CLNSRC
CLNACC	RCV000411818.1,