rs199565861

Orientation

plus

Stabilized

plus

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

Make rs199565861(A;G)

Make rs199565861(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3481793

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs199565861
dbSNP (classic)	rs199565861
ClinGen	rs199565861
ebi	rs199565861
HLI	rs199565861
Exac	rs199565861
Gnomad	rs199565861
Varsome	rs199565861
LitVar	rs199565861
Map	rs199565861
PheGenI	rs199565861
Biobank	rs199565861
1000 genomes	rs199565861
hgdp	rs199565861
ensembl	rs199565861
geneview	rs199565861
scholar	rs199565861
google	rs199565861
pharmgkb	rs199565861
gwascentral	rs199565861
openSNP	rs199565861
23andMe	rs199565861
SNPshot	rs199565861
SNPdbe	rs199565861
MSV3d	rs199565861
GWAS Ctlg	rs199565861

Max Magnitude

8

ClinVar
Risk	rs199565861(G;G) Rs199565861(T;T)
Alt	rs199565861(G;G) Rs199565861(T;T)
Reference	Rs199565861(A;A)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ASPA SPATA22
CLNDBN	not provided
Reversed	0
HGVS	NC_000017.10:g.3385087A>T
CLNSRC
CLNACC	RCV000414045.1,