rs1057521115

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3481734

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057521115
dbSNP (classic)	rs1057521115
ClinGen	rs1057521115
ebi	rs1057521115
HLI	rs1057521115
Exac	rs1057521115
Gnomad	rs1057521115
Varsome	rs1057521115
LitVar	rs1057521115
Map	rs1057521115
PheGenI	rs1057521115
Biobank	rs1057521115
1000 genomes	rs1057521115
hgdp	rs1057521115
ensembl	rs1057521115
geneview	rs1057521115
scholar	rs1057521115
google	rs1057521115
pharmgkb	rs1057521115
gwascentral	rs1057521115
openSNP	rs1057521115
23andMe	rs1057521115
SNPshot	rs1057521115
SNPdbe	rs1057521115
MSV3d	rs1057521115
GWAS Ctlg	rs1057521115

Max Magnitude

8

ClinVar
Risk	Rs1057521115(A;A)
Alt	Rs1057521115(A;A)
Reference	Rs1057521115(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	ASPA SPATA22
CLNDBN	not provided
Reversed	0
HGVS	NC_000017.10:g.3385028G>A
CLNSRC
CLNACC	RCV000432912.1,