rs780936696

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)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

3481601

Gene	ASPA, SPATA22

is a	snp
is	mentioned by
dbSNP	rs780936696
dbSNP (classic)	rs780936696
ClinGen	rs780936696
ebi	rs780936696
HLI	rs780936696
Exac	rs780936696
Gnomad	rs780936696
Varsome	rs780936696
LitVar	rs780936696
Map	rs780936696
PheGenI	rs780936696
Biobank	rs780936696
1000 genomes	rs780936696
hgdp	rs780936696
ensembl	rs780936696
geneview	rs780936696
scholar	rs780936696
google	rs780936696
pharmgkb	rs780936696
gwascentral	rs780936696
openSNP	rs780936696
23andMe	rs780936696
SNPshot	rs780936696
SNPdbe	rs780936696
MSV3d	rs780936696
GWAS Ctlg	rs780936696

Max Magnitude

8

ASPA gene variant, known as c.237-2A>T

Note that one source in ClinVar indicates that the minor allele is a pathogenic mutation (for Canavan disease), while another source indicates the minor allele is of uncertain significance.

ClinVar
Risk	Rs780936696(T;T)
Alt	Rs780936696(T;T)
Reference	Rs780936696(A;A)
Significance	Other
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.3384895A>T
CLNSRC
CLNACC	RCV000169526.2,