rs774323189

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

3499005

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs774323189
dbSNP (classic)	rs774323189
ClinGen	rs774323189
ebi	rs774323189
HLI	rs774323189
Exac	rs774323189
Gnomad	rs774323189
Varsome	rs774323189
LitVar	rs774323189
Map	rs774323189
PheGenI	rs774323189
Biobank	rs774323189
1000 genomes	rs774323189
hgdp	rs774323189
ensembl	rs774323189
geneview	rs774323189
scholar	rs774323189
google	rs774323189
pharmgkb	rs774323189
gwascentral	rs774323189
openSNP	rs774323189
23andMe	rs774323189
SNPshot	rs774323189
SNPdbe	rs774323189
MSV3d	rs774323189
GWAS Ctlg	rs774323189

Max Magnitude

8

ClinVar
Risk	Rs774323189(A;A)
Alt	Rs774323189(A;A)
Reference	Rs774323189(G;G)
Significance	Probable-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.3402299G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169134.1,