rs786204572

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

3489249

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs786204572
dbSNP (classic)	rs786204572
ClinGen	rs786204572
ebi	rs786204572
HLI	rs786204572
Exac	rs786204572
Gnomad	rs786204572
Varsome	rs786204572
LitVar	rs786204572
Map	rs786204572
PheGenI	rs786204572
Biobank	rs786204572
1000 genomes	rs786204572
hgdp	rs786204572
ensembl	rs786204572
geneview	rs786204572
scholar	rs786204572
google	rs786204572
pharmgkb	rs786204572
gwascentral	rs786204572
openSNP	rs786204572
23andMe	rs786204572
SNPshot	rs786204572
SNPdbe	rs786204572
MSV3d	rs786204572
GWAS Ctlg	rs786204572

Max Magnitude

8

ClinVar
Risk	Rs786204572(A;A)
Alt	Rs786204572(A;A)
Reference	Rs786204572(C;C)
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.3392543C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169314.1,