rs1057517138

Orientation

minus

Stabilized

minus

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

Make rs1057517138(-;-)

Make rs1057517138(-;AT)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23338131

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517138
dbSNP (classic)	rs1057517138
ClinGen	rs1057517138
ebi	rs1057517138
HLI	rs1057517138
Exac	rs1057517138
Gnomad	rs1057517138
Varsome	rs1057517138
LitVar	rs1057517138
Map	rs1057517138
PheGenI	rs1057517138
Biobank	rs1057517138
1000 genomes	rs1057517138
hgdp	rs1057517138
ensembl	rs1057517138
geneview	rs1057517138
scholar	rs1057517138
google	rs1057517138
pharmgkb	rs1057517138
gwascentral	rs1057517138
openSNP	rs1057517138
23andMe	rs1057517138
SNPshot	rs1057517138
SNPdbe	rs1057517138
MSV3d	rs1057517138
GWAS Ctlg	rs1057517138

Max Magnitude

0

ClinVar
Risk	rs1057517138(-;-)
Alt	rs1057517138(-;-)
Reference	Rs1057517138(AT;AT)
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.23912270_23912271delAT
CLNSRC
CLNACC	RCV000411869.1,