rs767666474

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

3476191

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs767666474
dbSNP (classic)	rs767666474
ClinGen	rs767666474
ebi	rs767666474
HLI	rs767666474
Exac	rs767666474
Gnomad	rs767666474
Varsome	rs767666474
LitVar	rs767666474
Map	rs767666474
PheGenI	rs767666474
Biobank	rs767666474
1000 genomes	rs767666474
hgdp	rs767666474
ensembl	rs767666474
geneview	rs767666474
scholar	rs767666474
google	rs767666474
pharmgkb	rs767666474
gwascentral	rs767666474
openSNP	rs767666474
23andMe	rs767666474
SNPshot	rs767666474
SNPdbe	rs767666474
MSV3d	rs767666474
GWAS Ctlg	rs767666474

Max Magnitude

8

ClinVar
Risk	Rs767666474(-;-)
Alt	Rs767666474(-;-)
Reference	Rs767666474(T;T)
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.3379485delT
CLNSRC
CLNACC	RCV000169442.1,