rs1057516416

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

3494355

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs1057516416
dbSNP (classic)	rs1057516416
ClinGen	rs1057516416
ebi	rs1057516416
HLI	rs1057516416
Exac	rs1057516416
Gnomad	rs1057516416
Varsome	rs1057516416
LitVar	rs1057516416
Map	rs1057516416
PheGenI	rs1057516416
Biobank	rs1057516416
1000 genomes	rs1057516416
hgdp	rs1057516416
ensembl	rs1057516416
geneview	rs1057516416
scholar	rs1057516416
google	rs1057516416
pharmgkb	rs1057516416
gwascentral	rs1057516416
openSNP	rs1057516416
23andMe	rs1057516416
SNPshot	rs1057516416
SNPdbe	rs1057516416
MSV3d	rs1057516416
GWAS Ctlg	rs1057516416

Max Magnitude

8

ClinVar
Risk	Rs1057516416(T;T)
Alt	Rs1057516416(T;T)
Reference	Rs1057516416(G;G)
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.3397649G>T
CLNSRC
CLNACC	RCV000409149.1,