rs377217076

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3498916

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs377217076
dbSNP (classic)	rs377217076
ClinGen	rs377217076
ebi	rs377217076
HLI	rs377217076
Exac	rs377217076
Gnomad	rs377217076
Varsome	rs377217076
LitVar	rs377217076
Map	rs377217076
PheGenI	rs377217076
Biobank	rs377217076
1000 genomes	rs377217076
hgdp	rs377217076
ensembl	rs377217076
geneview	rs377217076
scholar	rs377217076
google	rs377217076
pharmgkb	rs377217076
gwascentral	rs377217076
openSNP	rs377217076
23andMe	rs377217076
SNPshot	rs377217076
SNPdbe	rs377217076
MSV3d	rs377217076
GWAS Ctlg	rs377217076

Max Magnitude

8

ClinVar
Risk	Rs377217076(G;G)
Alt	Rs377217076(G;G)
Reference	Rs377217076(C;C)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	ASPA SPATA22
CLNDBN	not provided
Reversed	0
HGVS	NC_000017.10:g.3402210C>G
CLNSRC
CLNACC	RCV000494038.1,