rs1057517242

Orientation

minus

Stabilized

minus

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

Make rs1057517242(-;-)

Make rs1057517242(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23355527

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517242
dbSNP (classic)	rs1057517242
ClinGen	rs1057517242
ebi	rs1057517242
HLI	rs1057517242
Exac	rs1057517242
Gnomad	rs1057517242
Varsome	rs1057517242
LitVar	rs1057517242
Map	rs1057517242
PheGenI	rs1057517242
Biobank	rs1057517242
1000 genomes	rs1057517242
hgdp	rs1057517242
ensembl	rs1057517242
geneview	rs1057517242
scholar	rs1057517242
google	rs1057517242
pharmgkb	rs1057517242
gwascentral	rs1057517242
openSNP	rs1057517242
23andMe	rs1057517242
SNPshot	rs1057517242
SNPdbe	rs1057517242
MSV3d	rs1057517242
GWAS Ctlg	rs1057517242

Max Magnitude

0

ClinVar
Risk	rs1057517242(-;-)
Alt	rs1057517242(-;-)
Reference	Rs1057517242(A;A)
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.23929666delT
CLNSRC
CLNACC	RCV000410403.1,