rs104894549

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

17

Position

3494369

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs104894549
dbSNP (classic)	rs104894549
ClinGen	rs104894549
ebi	rs104894549
HLI	rs104894549
Exac	rs104894549
Gnomad	rs104894549
Varsome	rs104894549
LitVar	rs104894549
Map	rs104894549
PheGenI	rs104894549
Biobank	rs104894549
1000 genomes	rs104894549
hgdp	rs104894549
ensembl	rs104894549
geneview	rs104894549
scholar	rs104894549
google	rs104894549
pharmgkb	rs104894549
gwascentral	rs104894549
openSNP	rs104894549
23andMe	rs104894549
SNPshot	rs104894549
SNPdbe	rs104894549
MSV3d	rs104894549
GWAS Ctlg	rs104894549

Max Magnitude

8

ASPA gene variant; c.654C>A, p.Cys218Ter, C218X

23andMe name: i5000055

OMIM	608034
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs104894549(A;A) rs104894549(T;T)
Alt	Rs104894549(A;A) rs104894549(T;T)
Reference	Rs104894549(C;C)
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.3397663C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002726.2,