rs104894553

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	4	mild Canavan disease
(A;G)	3	Carrier of a (mild) Canavan disease mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

17

Position

3476371

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs104894553
dbSNP (classic)	rs104894553
ClinGen	rs104894553
ebi	rs104894553
HLI	rs104894553
Exac	rs104894553
Gnomad	rs104894553
Varsome	rs104894553
LitVar	rs104894553
Map	rs104894553
PheGenI	rs104894553
Biobank	rs104894553
1000 genomes	rs104894553
hgdp	rs104894553
ensembl	rs104894553
geneview	rs104894553
scholar	rs104894553
google	rs104894553
pharmgkb	rs104894553
gwascentral	rs104894553
openSNP	rs104894553
23andMe	rs104894553
SNPshot	rs104894553
SNPdbe	rs104894553
MSV3d	rs104894553
GWAS Ctlg	rs104894553

Max Magnitude

4

OMIM	608034
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs104894553(A;A)
Alt	Rs104894553(A;A)
Reference	Rs104894553(G;G)
Significance	Pathogenic
Disease	Canavan disease Spongy degeneration of central nervous system
Variation	info
Gene	SPATA22 ASPA
CLNDBN	Canavan disease, mild Spongy degeneration of central nervous system
Reversed	0
HGVS	NC_000017.10:g.3379665G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002734.2, RCV000363108.1,