rs1057516583

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3481610

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057516583
dbSNP (classic)	rs1057516583
ClinGen	rs1057516583
ebi	rs1057516583
HLI	rs1057516583
Exac	rs1057516583
Gnomad	rs1057516583
Varsome	rs1057516583
LitVar	rs1057516583
Map	rs1057516583
PheGenI	rs1057516583
Biobank	rs1057516583
1000 genomes	rs1057516583
hgdp	rs1057516583
ensembl	rs1057516583
geneview	rs1057516583
scholar	rs1057516583
google	rs1057516583
pharmgkb	rs1057516583
gwascentral	rs1057516583
openSNP	rs1057516583
23andMe	rs1057516583
SNPshot	rs1057516583
SNPdbe	rs1057516583
MSV3d	rs1057516583
GWAS Ctlg	rs1057516583

Max Magnitude

8

ClinVar
Risk	Rs1057516583(A;A)
Alt	Rs1057516583(A;A)
Reference	Rs1057516583(-;-)
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.3384904dupA
CLNSRC
CLNACC	RCV000411166.1,