rs1057516853

Orientation

minus

Stabilized

minus

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

Make rs1057516853(A;A)

Make rs1057516853(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23335009

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516853
dbSNP (classic)	rs1057516853
ClinGen	rs1057516853
ebi	rs1057516853
HLI	rs1057516853
Exac	rs1057516853
Gnomad	rs1057516853
Varsome	rs1057516853
LitVar	rs1057516853
Map	rs1057516853
PheGenI	rs1057516853
Biobank	rs1057516853
1000 genomes	rs1057516853
hgdp	rs1057516853
ensembl	rs1057516853
geneview	rs1057516853
scholar	rs1057516853
google	rs1057516853
pharmgkb	rs1057516853
gwascentral	rs1057516853
openSNP	rs1057516853
23andMe	rs1057516853
SNPshot	rs1057516853
SNPdbe	rs1057516853
MSV3d	rs1057516853
GWAS Ctlg	rs1057516853

Max Magnitude

0

ClinVar
Risk	rs1057516853(A;A)
Alt	rs1057516853(A;A)
Reference	Rs1057516853(T;T)
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.23909148A>T
CLNSRC
CLNACC	RCV000411855.1,