rs1057516315

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	8	Canavan disease (predicted)
(-;C)	3	Carrier of a Canavan disease mutation
(C;C)	0	common in clinvar

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3494412

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057516315
dbSNP (classic)	rs1057516315
ClinGen	rs1057516315
ebi	rs1057516315
HLI	rs1057516315
Exac	rs1057516315
Gnomad	rs1057516315
Varsome	rs1057516315
LitVar	rs1057516315
Map	rs1057516315
PheGenI	rs1057516315
Biobank	rs1057516315
1000 genomes	rs1057516315
hgdp	rs1057516315
ensembl	rs1057516315
geneview	rs1057516315
scholar	rs1057516315
google	rs1057516315
pharmgkb	rs1057516315
gwascentral	rs1057516315
openSNP	rs1057516315
23andMe	rs1057516315
SNPshot	rs1057516315
SNPdbe	rs1057516315
MSV3d	rs1057516315
GWAS Ctlg	rs1057516315

Max Magnitude

8

ClinVar
Risk	Rs1057516315(-;-)
Alt	Rs1057516315(-;-)
Reference	Rs1057516315(C;C)
Significance	Probable-Pathogenic
Disease	Spongy degeneration of central nervous system
Variation	info
Gene	ASPA SPATA22
CLNDBN	Spongy degeneration of central nervous system
Reversed	0
HGVS	NC_000017.10:g.3397706delC
CLNSRC
CLNACC	RCV000410986.1,