rs1057517085

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3498973

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057517085
dbSNP (classic)	rs1057517085
ClinGen	rs1057517085
ebi	rs1057517085
HLI	rs1057517085
Exac	rs1057517085
Gnomad	rs1057517085
Varsome	rs1057517085
LitVar	rs1057517085
Map	rs1057517085
PheGenI	rs1057517085
Biobank	rs1057517085
1000 genomes	rs1057517085
hgdp	rs1057517085
ensembl	rs1057517085
geneview	rs1057517085
scholar	rs1057517085
google	rs1057517085
pharmgkb	rs1057517085
gwascentral	rs1057517085
openSNP	rs1057517085
23andMe	rs1057517085
SNPshot	rs1057517085
SNPdbe	rs1057517085
MSV3d	rs1057517085
GWAS Ctlg	rs1057517085

Max Magnitude

8

ClinVar
Risk	Rs1057517085(-;-)
Alt	Rs1057517085(-;-)
Reference	Rs1057517085(TG;TG)
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.3402267_3402268delGT
CLNSRC
CLNACC	RCV000411691.1,