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rs786204572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 Canavan disease (predicted)
(A;C) 3 Carrier of a Canavan disease mutation
(C;C) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position3489249
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs786204572
dbSNP (classic)rs786204572
ClinGenrs786204572
ebirs786204572
HLIrs786204572
Exacrs786204572
Gnomadrs786204572
Varsomers786204572
LitVarrs786204572
Maprs786204572
PheGenIrs786204572
Biobankrs786204572
1000 genomesrs786204572
hgdprs786204572
ensemblrs786204572
geneviewrs786204572
scholarrs786204572
googlers786204572
pharmgkbrs786204572
gwascentralrs786204572
openSNPrs786204572
23andMers786204572
SNPshotrs786204572
SNPdbers786204572
MSV3drs786204572
GWAS Ctlgrs786204572
Max Magnitude8
ClinVar
Risk Rs786204572(A;A)
Alt Rs786204572(A;A)
Reference Rs786204572(C;C)
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.3392543C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000169314.1,