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rs1057516583

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 3 Carrier of a Canavan disease mutation
(A;A) 8 Canavan disease (predicted)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3481610
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057516583
dbSNP (classic)rs1057516583
biobankenginers1057516583
ClinGenrs1057516583
ebirs1057516583
HLIrs1057516583
Exacrs1057516583
Gnomadrs1057516583
Varsomers1057516583
LitVarrs1057516583
Maprs1057516583
PheGenIrs1057516583
Biobankrs1057516583
1000 genomesrs1057516583
hgdprs1057516583
ensemblrs1057516583
geneviewrs1057516583
scholarrs1057516583
googlers1057516583
pharmgkbrs1057516583
gwascentralrs1057516583
openSNPrs1057516583
23andMers1057516583
23andMe allrs1057516583
SNPshotrs1057516583
SNPdbers1057516583
MSV3drs1057516583
GWAS Ctlgrs1057516583
Max Magnitude8
ClinVar
Risk Rs1057516583(A;A)
Alt Rs1057516583(A;A)
Reference Rs1057516583(-;-)
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.3384904dupA
CLNSRC
CLNACC RCV000411166.1,