rs63751297

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

3483497

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs63751297
dbSNP (classic)	rs63751297
ClinGen	rs63751297
ebi	rs63751297
HLI	rs63751297
Exac	rs63751297
Gnomad	rs63751297
Varsome	rs63751297
LitVar	rs63751297
Map	rs63751297
PheGenI	rs63751297
Biobank	rs63751297
1000 genomes	rs63751297
hgdp	rs63751297
ensembl	rs63751297
geneview	rs63751297
scholar	rs63751297
google	rs63751297
pharmgkb	rs63751297
gwascentral	rs63751297
openSNP	rs63751297
23andMe	rs63751297
SNPshot	rs63751297
SNPdbe	rs63751297
MSV3d	rs63751297
GWAS Ctlg	rs63751297

Max Magnitude

8

ClinVar
Risk	Rs63751297(G;G)
Alt	Rs63751297(G;G)
Reference	Rs63751297(A;A)
Significance	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.3386791A>G
CLNSRC
CLNACC	RCV000176967.1,