rs1057517450

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3499022

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057517450
dbSNP (classic)	rs1057517450
ClinGen	rs1057517450
ebi	rs1057517450
HLI	rs1057517450
Exac	rs1057517450
Gnomad	rs1057517450
Varsome	rs1057517450
LitVar	rs1057517450
Map	rs1057517450
PheGenI	rs1057517450
Biobank	rs1057517450
1000 genomes	rs1057517450
hgdp	rs1057517450
ensembl	rs1057517450
geneview	rs1057517450
scholar	rs1057517450
google	rs1057517450
pharmgkb	rs1057517450
gwascentral	rs1057517450
openSNP	rs1057517450
23andMe	rs1057517450
SNPshot	rs1057517450
SNPdbe	rs1057517450
MSV3d	rs1057517450
GWAS Ctlg	rs1057517450

Max Magnitude

8

ClinVar
Risk	Rs1057517450(-;-)
Alt	Rs1057517450(-;-)
Reference	Rs1057517450(AAAG;AAAG)
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.3402316_3402319delAGAA
CLNSRC
CLNACC	RCV000409212.1,