rs1057516879

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3476161

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057516879
dbSNP (classic)	rs1057516879
ClinGen	rs1057516879
ebi	rs1057516879
HLI	rs1057516879
Exac	rs1057516879
Gnomad	rs1057516879
Varsome	rs1057516879
LitVar	rs1057516879
Map	rs1057516879
PheGenI	rs1057516879
Biobank	rs1057516879
1000 genomes	rs1057516879
hgdp	rs1057516879
ensembl	rs1057516879
geneview	rs1057516879
scholar	rs1057516879
google	rs1057516879
pharmgkb	rs1057516879
gwascentral	rs1057516879
openSNP	rs1057516879
23andMe	rs1057516879
SNPshot	rs1057516879
SNPdbe	rs1057516879
MSV3d	rs1057516879
GWAS Ctlg	rs1057516879

Max Magnitude

8

ClinVar
Risk	Rs1057516879(C;C)
Alt	Rs1057516879(C;C)
Reference	Rs1057516879(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.3379455T>C
CLNSRC
CLNACC	RCV000411719.1,