rs766328537

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

3476238

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs766328537
dbSNP (classic)	rs766328537
ClinGen	rs766328537
ebi	rs766328537
HLI	rs766328537
Exac	rs766328537
Gnomad	rs766328537
Varsome	rs766328537
LitVar	rs766328537
Map	rs766328537
PheGenI	rs766328537
Biobank	rs766328537
1000 genomes	rs766328537
hgdp	rs766328537
ensembl	rs766328537
geneview	rs766328537
scholar	rs766328537
google	rs766328537
pharmgkb	rs766328537
gwascentral	rs766328537
openSNP	rs766328537
23andMe	rs766328537
SNPshot	rs766328537
SNPdbe	rs766328537
MSV3d	rs766328537
GWAS Ctlg	rs766328537

Max Magnitude

8

ClinVar
Risk	Rs766328537(A;A)
Alt	Rs766328537(A;A)
Reference	Rs766328537(G;G)
Significance	Pathogenic
Disease	Spongy degeneration of central nervous system not provided
Variation	info
Gene	SPATA22 ASPA
CLNDBN	Spongy degeneration of central nervous system not provided
Reversed	0
HGVS	NC_000017.10:g.3379532G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169243.1, RCV000489399.1,