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rs1057516309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8 Canavan disease (predicted)
(-;A) 3 Carrier of a Canavan disease mutation
(A;A) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3499068
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057516309
dbSNP (old)rs1057516309
ClinGenrs1057516309
ebirs1057516309
HLIrs1057516309
Exacrs1057516309
Gnomadrs1057516309
Varsomers1057516309
LitVarrs1057516309
Maprs1057516309
PheGenIrs1057516309
Biobankrs1057516309
1000 genomesrs1057516309
hgdprs1057516309
ensemblrs1057516309
gopubmedrs1057516309
geneviewrs1057516309
scholarrs1057516309
googlers1057516309
pharmgkbrs1057516309
gwascentralrs1057516309
openSNPrs1057516309
23andMers1057516309
23andMe allrs1057516309
SNPshotrs1057516309
SNPdbers1057516309
MSV3drs1057516309
GWAS Ctlgrs1057516309
Max Magnitude8
ClinVar
Risk Rs1057516309(-;-)
Alt Rs1057516309(-;-)
Reference Rs1057516309(A;A)
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.3402362delA
CLNSRC
CLNACC RCV000409768.1,