rs1057517066

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

3498889

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057517066
dbSNP (classic)	rs1057517066
ClinGen	rs1057517066
ebi	rs1057517066
HLI	rs1057517066
Exac	rs1057517066
Gnomad	rs1057517066
Varsome	rs1057517066
LitVar	rs1057517066
Map	rs1057517066
PheGenI	rs1057517066
Biobank	rs1057517066
1000 genomes	rs1057517066
hgdp	rs1057517066
ensembl	rs1057517066
geneview	rs1057517066
scholar	rs1057517066
google	rs1057517066
pharmgkb	rs1057517066
gwascentral	rs1057517066
openSNP	rs1057517066
23andMe	rs1057517066
SNPshot	rs1057517066
SNPdbe	rs1057517066
MSV3d	rs1057517066
GWAS Ctlg	rs1057517066

Max Magnitude

8

ClinVar
Risk	Rs1057517066(G;G)
Alt	Rs1057517066(G;G)
Reference	Rs1057517066(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.3402183A>G
CLNSRC
CLNACC	RCV000411452.1,