rs104894551

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

3476230

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs104894551
dbSNP (classic)	rs104894551
ClinGen	rs104894551
ebi	rs104894551
HLI	rs104894551
Exac	rs104894551
Gnomad	rs104894551
Varsome	rs104894551
LitVar	rs104894551
Map	rs104894551
PheGenI	rs104894551
Biobank	rs104894551
1000 genomes	rs104894551
hgdp	rs104894551
ensembl	rs104894551
geneview	rs104894551
scholar	rs104894551
google	rs104894551
pharmgkb	rs104894551
gwascentral	rs104894551
openSNP	rs104894551
23andMe	rs104894551
SNPshot	rs104894551
SNPdbe	rs104894551
MSV3d	rs104894551
GWAS Ctlg	rs104894551

Max Magnitude

8

ASPA gene variant; c.71A>G, p.Glu24Gly, E24G

23andMe name: i5006786

OMIM	608034
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs104894551(G;G)
Alt	Rs104894551(G;G)
Reference	Rs104894551(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.3379524A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002732.2,