rs1057517451

Orientation

minus

Stabilized

minus

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

Make rs1057517451(-;-)

Make rs1057517451(-;AGTCCCAAAGC)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23336372

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517451
dbSNP (classic)	rs1057517451
ClinGen	rs1057517451
ebi	rs1057517451
HLI	rs1057517451
Exac	rs1057517451
Gnomad	rs1057517451
Varsome	rs1057517451
LitVar	rs1057517451
Map	rs1057517451
PheGenI	rs1057517451
Biobank	rs1057517451
1000 genomes	rs1057517451
hgdp	rs1057517451
ensembl	rs1057517451
geneview	rs1057517451
scholar	rs1057517451
google	rs1057517451
pharmgkb	rs1057517451
gwascentral	rs1057517451
openSNP	rs1057517451
23andMe	rs1057517451
SNPshot	rs1057517451
SNPdbe	rs1057517451
MSV3d	rs1057517451
GWAS Ctlg	rs1057517451

Max Magnitude

0

ClinVar
Risk	rs1057517451(-;-)
Alt	rs1057517451(-;-)
Reference	Rs1057517451(AGTCCCAAAGC;AGTCCCAAAGC)
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.23910511_23910521delGCTTTGGGACT
CLNSRC
CLNACC	RCV000410317.1,