rs1057517232

Orientation

minus

Stabilized

minus

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

Make rs1057517232(-;-)

Make rs1057517232(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23332145

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517232
dbSNP (classic)	rs1057517232
ClinGen	rs1057517232
ebi	rs1057517232
HLI	rs1057517232
Exac	rs1057517232
Gnomad	rs1057517232
Varsome	rs1057517232
LitVar	rs1057517232
Map	rs1057517232
PheGenI	rs1057517232
Biobank	rs1057517232
1000 genomes	rs1057517232
hgdp	rs1057517232
ensembl	rs1057517232
geneview	rs1057517232
scholar	rs1057517232
google	rs1057517232
pharmgkb	rs1057517232
gwascentral	rs1057517232
openSNP	rs1057517232
23andMe	rs1057517232
SNPshot	rs1057517232
SNPdbe	rs1057517232
MSV3d	rs1057517232
GWAS Ctlg	rs1057517232

Max Magnitude

0

ClinVar
Risk	rs1057517232(-;-)
Alt	rs1057517232(-;-)
Reference	Rs1057517232(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.23906284delT
CLNSRC
CLNACC	RCV000411930.1,