rs1057516498

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3494365

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057516498
dbSNP (classic)	rs1057516498
ClinGen	rs1057516498
ebi	rs1057516498
HLI	rs1057516498
Exac	rs1057516498
Gnomad	rs1057516498
Varsome	rs1057516498
LitVar	rs1057516498
Map	rs1057516498
PheGenI	rs1057516498
Biobank	rs1057516498
1000 genomes	rs1057516498
hgdp	rs1057516498
ensembl	rs1057516498
geneview	rs1057516498
scholar	rs1057516498
google	rs1057516498
pharmgkb	rs1057516498
gwascentral	rs1057516498
openSNP	rs1057516498
23andMe	rs1057516498
SNPshot	rs1057516498
SNPdbe	rs1057516498
MSV3d	rs1057516498
GWAS Ctlg	rs1057516498

Max Magnitude

8

ClinVar
Risk	Rs1057516498(-;-)
Alt	Rs1057516498(-;-)
Reference	Rs1057516498(CC;CC)
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.3397659_3397660delCC
CLNSRC
CLNACC	RCV000409139.1,