rs1057516995

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3494446

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057516995
dbSNP (classic)	rs1057516995
ClinGen	rs1057516995
ebi	rs1057516995
HLI	rs1057516995
Exac	rs1057516995
Gnomad	rs1057516995
Varsome	rs1057516995
LitVar	rs1057516995
Map	rs1057516995
PheGenI	rs1057516995
Biobank	rs1057516995
1000 genomes	rs1057516995
hgdp	rs1057516995
ensembl	rs1057516995
geneview	rs1057516995
scholar	rs1057516995
google	rs1057516995
pharmgkb	rs1057516995
gwascentral	rs1057516995
openSNP	rs1057516995
23andMe	rs1057516995
SNPshot	rs1057516995
SNPdbe	rs1057516995
MSV3d	rs1057516995
GWAS Ctlg	rs1057516995

Max Magnitude

8

ClinVar
Risk	Rs1057516995(G;G)
Alt	Rs1057516995(G;G)
Reference	Rs1057516995(A;A)
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.3397740A>G
CLNSRC
CLNACC	RCV000411129.1,