rs1057516309

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3499068

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057516309
dbSNP (classic)	rs1057516309
ClinGen	rs1057516309
ebi	rs1057516309
HLI	rs1057516309
Exac	rs1057516309
Gnomad	rs1057516309
Varsome	rs1057516309
LitVar	rs1057516309
Map	rs1057516309
PheGenI	rs1057516309
Biobank	rs1057516309
1000 genomes	rs1057516309
hgdp	rs1057516309
ensembl	rs1057516309
geneview	rs1057516309
scholar	rs1057516309
google	rs1057516309
pharmgkb	rs1057516309
gwascentral	rs1057516309
openSNP	rs1057516309
23andMe	rs1057516309
SNPshot	rs1057516309
SNPdbe	rs1057516309
MSV3d	rs1057516309
GWAS Ctlg	rs1057516309

Max Magnitude

8

ClinVar
Risk	Rs1057516309(-;-)
Alt	Rs1057516309(-;-)
Reference	Rs1057516309(A;A)
Significance	Probable-Pathogenic
Disease	Spongy degeneration of central nervous system
Variation	info
Gene	SPATA22 ASPA
CLNDBN	Spongy degeneration of central nervous system
Reversed	0
HGVS	NC_000017.10:g.3402362delA
CLNSRC
CLNACC	RCV000409768.1,