rs1057516962

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.p7 38.3/150

Chromosome

17

Position

3481611

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057516962
dbSNP (classic)	rs1057516962
ClinGen	rs1057516962
ebi	rs1057516962
HLI	rs1057516962
Exac	rs1057516962
Gnomad	rs1057516962
Varsome	rs1057516962
LitVar	rs1057516962
Map	rs1057516962
PheGenI	rs1057516962
Biobank	rs1057516962
1000 genomes	rs1057516962
hgdp	rs1057516962
ensembl	rs1057516962
geneview	rs1057516962
scholar	rs1057516962
google	rs1057516962
pharmgkb	rs1057516962
gwascentral	rs1057516962
openSNP	rs1057516962
23andMe	rs1057516962
SNPshot	rs1057516962
SNPdbe	rs1057516962
MSV3d	rs1057516962
GWAS Ctlg	rs1057516962

Max Magnitude

8

ClinVar
Risk	Rs1057516962(-;-)
Alt	Rs1057516962(-;-)
Reference	Rs1057516962(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.3384905delT
CLNSRC
CLNACC	RCV000410405.1,