rs104894548

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

17

Position

3483520

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs104894548
dbSNP (classic)	rs104894548
ClinGen	rs104894548
ebi	rs104894548
HLI	rs104894548
Exac	rs104894548
Gnomad	rs104894548
Varsome	rs104894548
LitVar	rs104894548
Map	rs104894548
PheGenI	rs104894548
Biobank	rs104894548
1000 genomes	rs104894548
hgdp	rs104894548
ensembl	rs104894548
geneview	rs104894548
scholar	rs104894548
google	rs104894548
pharmgkb	rs104894548
gwascentral	rs104894548
openSNP	rs104894548
23andMe	rs104894548
SNPshot	rs104894548
SNPdbe	rs104894548
MSV3d	rs104894548
GWAS Ctlg	rs104894548

Max Magnitude

8

ASPA gene variant; c.454T>C, p.Cys152Arg, C152R

23andMe name: i5006784

OMIM	608034
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs104894548(C;C)
Alt	Rs104894548(C;C)
Reference	Rs104894548(T;T)
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.3386814T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002724.2,