rs375736464

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

Make rs375736464(C;T)

Make rs375736464(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3499013

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs375736464
dbSNP (classic)	rs375736464
ClinGen	rs375736464
ebi	rs375736464
HLI	rs375736464
Exac	rs375736464
Gnomad	rs375736464
Varsome	rs375736464
LitVar	rs375736464
Map	rs375736464
PheGenI	rs375736464
Biobank	rs375736464
1000 genomes	rs375736464
hgdp	rs375736464
ensembl	rs375736464
geneview	rs375736464
scholar	rs375736464
google	rs375736464
pharmgkb	rs375736464
gwascentral	rs375736464
openSNP	rs375736464
23andMe	rs375736464
SNPshot	rs375736464
SNPdbe	rs375736464
MSV3d	rs375736464
GWAS Ctlg	rs375736464

Max Magnitude

8

ClinVar
Risk	Rs375736464(A;A) rs375736464(T;T)
Alt	Rs375736464(A;A) rs375736464(T;T)
Reference	Rs375736464(C;C)
Significance	Probable-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.3402307C>A
CLNSRC
CLNACC	RCV000409473.1,