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rs1057521115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 Canavan disease (predicted)
(A;G) 3 Carrier of a Canavan disease mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3481734
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057521115
dbSNP (old)rs1057521115
ClinGenrs1057521115
ebirs1057521115
HLIrs1057521115
Exacrs1057521115
Gnomadrs1057521115
Varsomers1057521115
Maprs1057521115
PheGenIrs1057521115
Biobankrs1057521115
1000 genomesrs1057521115
hgdprs1057521115
ensemblrs1057521115
gopubmedrs1057521115
geneviewrs1057521115
scholarrs1057521115
googlers1057521115
pharmgkbrs1057521115
gwascentralrs1057521115
openSNPrs1057521115
23andMers1057521115
23andMe allrs1057521115
SNPshotrs1057521115
SNPdbers1057521115
MSV3drs1057521115
GWAS Ctlgrs1057521115
Max Magnitude8
ClinVar
Risk Rs1057521115(A;A)
Alt Rs1057521115(A;A)
Reference Rs1057521115(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene ASPA SPATA22
CLNDBN not provided
Reversed 0
HGVS NC_000017.10:g.3385028G>A
CLNSRC
CLNACC RCV000432912.1,