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rs1057516315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8 Canavan disease (predicted)
(-;C) 3 Carrier of a Canavan disease mutation
(C;C) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3494412
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057516315
dbSNP (old)rs1057516315
ClinGenrs1057516315
ebirs1057516315
HLIrs1057516315
Exacrs1057516315
Gnomadrs1057516315
Varsomers1057516315
Maprs1057516315
PheGenIrs1057516315
Biobankrs1057516315
1000 genomesrs1057516315
hgdprs1057516315
ensemblrs1057516315
gopubmedrs1057516315
geneviewrs1057516315
scholarrs1057516315
googlers1057516315
pharmgkbrs1057516315
gwascentralrs1057516315
openSNPrs1057516315
23andMers1057516315
23andMe allrs1057516315
SNPshotrs1057516315
SNPdbers1057516315
MSV3drs1057516315
GWAS Ctlgrs1057516315
Max Magnitude8
ClinVar
Risk Rs1057516315(-;-)
Alt Rs1057516315(-;-)
Reference Rs1057516315(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.3397706delC
CLNSRC
CLNACC RCV000410986.1,