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rs767666474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8 Canavan disease (predicted)
(-;T) 3 Carrier of a Canavan disease mutation
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position3476191
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs767666474
dbSNP (classic)rs767666474
ClinGenrs767666474
ebirs767666474
HLIrs767666474
Exacrs767666474
Gnomadrs767666474
Varsomers767666474
LitVarrs767666474
Maprs767666474
PheGenIrs767666474
Biobankrs767666474
1000 genomesrs767666474
hgdprs767666474
ensemblrs767666474
geneviewrs767666474
scholarrs767666474
googlers767666474
pharmgkbrs767666474
gwascentralrs767666474
openSNPrs767666474
23andMers767666474
SNPshotrs767666474
SNPdbers767666474
MSV3drs767666474
GWAS Ctlgrs767666474
Max Magnitude8
ClinVar
Risk Rs767666474(-;-)
Alt Rs767666474(-;-)
Reference Rs767666474(T;T)
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.3379485delT
CLNSRC
CLNACC RCV000169442.1,