rs1057517099

Orientation

minus

Stabilized

minus

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

Make rs1057517099(-;A)

Make rs1057517099(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23338091

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517099
dbSNP (classic)	rs1057517099
ClinGen	rs1057517099
ebi	rs1057517099
HLI	rs1057517099
Exac	rs1057517099
Gnomad	rs1057517099
Varsome	rs1057517099
LitVar	rs1057517099
Map	rs1057517099
PheGenI	rs1057517099
Biobank	rs1057517099
1000 genomes	rs1057517099
hgdp	rs1057517099
ensembl	rs1057517099
geneview	rs1057517099
scholar	rs1057517099
google	rs1057517099
pharmgkb	rs1057517099
gwascentral	rs1057517099
openSNP	rs1057517099
23andMe	rs1057517099
SNPshot	rs1057517099
SNPdbe	rs1057517099
MSV3d	rs1057517099
GWAS Ctlg	rs1057517099

Max Magnitude

0

ClinVar
Risk	rs1057517099(A;A)
Alt	rs1057517099(A;A)
Reference	Rs1057517099(-;-)
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.23912231dupT
CLNSRC
CLNACC	RCV000409433.1,