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rs1057517066

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a Canavan disease mutation
(G;G) 8 Canavan disease (predicted)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3498889
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057517066
dbSNP (old)rs1057517066
ClinGenrs1057517066
ebirs1057517066
HLIrs1057517066
Exacrs1057517066
Gnomadrs1057517066
Varsomers1057517066
Maprs1057517066
PheGenIrs1057517066
Biobankrs1057517066
1000 genomesrs1057517066
hgdprs1057517066
ensemblrs1057517066
gopubmedrs1057517066
geneviewrs1057517066
scholarrs1057517066
googlers1057517066
pharmgkbrs1057517066
gwascentralrs1057517066
openSNPrs1057517066
23andMers1057517066
23andMe allrs1057517066
SNPshotrs1057517066
SNPdbers1057517066
MSV3drs1057517066
GWAS Ctlgrs1057517066
Max Magnitude8
ClinVar
Risk Rs1057517066(G;G)
Alt Rs1057517066(G;G)
Reference Rs1057517066(A;A)
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.3402183A>G
CLNSRC
CLNACC RCV000411452.1,