rs786204620

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

3481610

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs786204620
dbSNP (classic)	rs786204620
ClinGen	rs786204620
ebi	rs786204620
HLI	rs786204620
Exac	rs786204620
Gnomad	rs786204620
Varsome	rs786204620
LitVar	rs786204620
Map	rs786204620
PheGenI	rs786204620
Biobank	rs786204620
1000 genomes	rs786204620
hgdp	rs786204620
ensembl	rs786204620
geneview	rs786204620
scholar	rs786204620
google	rs786204620
pharmgkb	rs786204620
gwascentral	rs786204620
openSNP	rs786204620
23andMe	rs786204620
SNPshot	rs786204620
SNPdbe	rs786204620
MSV3d	rs786204620
GWAS Ctlg	rs786204620

Max Magnitude

8

ClinVar
Risk	Rs786204620(-;-)
Alt	Rs786204620(-;-)
Reference	Rs786204620(AT;AT)
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.3384904_3384905delAT
CLNSRC
CLNACC	RCV000169388.1,