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rs1057517260

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.p7 38.3/150
Chromosome17
Position3499070
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057517260
dbSNP (classic)rs1057517260
ClinGenrs1057517260
ebirs1057517260
HLIrs1057517260
Exacrs1057517260
Gnomadrs1057517260
Varsomers1057517260
LitVarrs1057517260
Maprs1057517260
PheGenIrs1057517260
Biobankrs1057517260
1000 genomesrs1057517260
hgdprs1057517260
ensemblrs1057517260
geneviewrs1057517260
scholarrs1057517260
googlers1057517260
pharmgkbrs1057517260
gwascentralrs1057517260
openSNPrs1057517260
23andMers1057517260
23andMe allrs1057517260
SNPshotrs1057517260
SNPdbers1057517260
MSV3drs1057517260
GWAS Ctlgrs1057517260
Max Magnitude8
ClinVar
Risk Rs1057517260(-;-)
Alt Rs1057517260(-;-)
Reference Rs1057517260(T;T)
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.3402364delT
CLNSRC
CLNACC RCV000410855.1,