rs104894550

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 38.1/141

Chromosome

17

Position

3494407

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs104894550
dbSNP (classic)	rs104894550
ClinGen	rs104894550
ebi	rs104894550
HLI	rs104894550
Exac	rs104894550
Gnomad	rs104894550
Varsome	rs104894550
LitVar	rs104894550
Map	rs104894550
PheGenI	rs104894550
Biobank	rs104894550
1000 genomes	rs104894550
hgdp	rs104894550
ensembl	rs104894550
geneview	rs104894550
scholar	rs104894550
google	rs104894550
pharmgkb	rs104894550
gwascentral	rs104894550
openSNP	rs104894550
23andMe	rs104894550
SNPshot	rs104894550
SNPdbe	rs104894550
MSV3d	rs104894550
GWAS Ctlg	rs104894550

Max Magnitude

8

OMIM	608034
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs104894550(G;G)
Alt	Rs104894550(G;G)
Reference	Rs104894550(A;A)
Significance	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.3397701A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002730.2,