rs761064915

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

3498966

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs761064915
dbSNP (classic)	rs761064915
ClinGen	rs761064915
ebi	rs761064915
HLI	rs761064915
Exac	rs761064915
Gnomad	rs761064915
Varsome	rs761064915
LitVar	rs761064915
Map	rs761064915
PheGenI	rs761064915
Biobank	rs761064915
1000 genomes	rs761064915
hgdp	rs761064915
ensembl	rs761064915
geneview	rs761064915
scholar	rs761064915
google	rs761064915
pharmgkb	rs761064915
gwascentral	rs761064915
openSNP	rs761064915
23andMe	rs761064915
SNPshot	rs761064915
SNPdbe	rs761064915
MSV3d	rs761064915
GWAS Ctlg	rs761064915

Max Magnitude

8

ClinVar
Risk	Rs761064915(A;A)
Alt	Rs761064915(A;A)
Reference	Rs761064915(G;G)
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.3402260G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169117.1,