rs1057517291

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3481602

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057517291
dbSNP (classic)	rs1057517291
ClinGen	rs1057517291
ebi	rs1057517291
HLI	rs1057517291
Exac	rs1057517291
Gnomad	rs1057517291
Varsome	rs1057517291
LitVar	rs1057517291
Map	rs1057517291
PheGenI	rs1057517291
Biobank	rs1057517291
1000 genomes	rs1057517291
hgdp	rs1057517291
ensembl	rs1057517291
geneview	rs1057517291
scholar	rs1057517291
google	rs1057517291
pharmgkb	rs1057517291
gwascentral	rs1057517291
openSNP	rs1057517291
23andMe	rs1057517291
SNPshot	rs1057517291
SNPdbe	rs1057517291
MSV3d	rs1057517291
GWAS Ctlg	rs1057517291

Max Magnitude

8

ClinVar
Risk	Rs1057517291(T;T)
Alt	Rs1057517291(T;T)
Reference	Rs1057517291(G;G)
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.3384896G>T
CLNSRC
CLNACC	RCV000411599.1,