rs1057517260

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3499070

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057517260
dbSNP (classic)	rs1057517260
ClinGen	rs1057517260
ebi	rs1057517260
HLI	rs1057517260
Exac	rs1057517260
Gnomad	rs1057517260
Varsome	rs1057517260
LitVar	rs1057517260
Map	rs1057517260
PheGenI	rs1057517260
Biobank	rs1057517260
1000 genomes	rs1057517260
hgdp	rs1057517260
ensembl	rs1057517260
geneview	rs1057517260
scholar	rs1057517260
google	rs1057517260
pharmgkb	rs1057517260
gwascentral	rs1057517260
openSNP	rs1057517260
23andMe	rs1057517260
SNPshot	rs1057517260
SNPdbe	rs1057517260
MSV3d	rs1057517260
GWAS Ctlg	rs1057517260

Max Magnitude

8

ClinVar
Risk	Rs1057517260(-;-)
Alt	Rs1057517260(-;-)
Reference	Rs1057517260(T;T)
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.3402364delT
CLNSRC
CLNACC	RCV000410855.1,