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rs1057516962

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
Position3481611
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057516962
dbSNP (old)rs1057516962
ClinGenrs1057516962
ebirs1057516962
HLIrs1057516962
Exacrs1057516962
Gnomadrs1057516962
Varsomers1057516962
LitVarrs1057516962
Maprs1057516962
PheGenIrs1057516962
Biobankrs1057516962
1000 genomesrs1057516962
hgdprs1057516962
ensemblrs1057516962
gopubmedrs1057516962
geneviewrs1057516962
scholarrs1057516962
googlers1057516962
pharmgkbrs1057516962
gwascentralrs1057516962
openSNPrs1057516962
23andMers1057516962
23andMe allrs1057516962
SNPshotrs1057516962
SNPdbers1057516962
MSV3drs1057516962
GWAS Ctlgrs1057516962
Max Magnitude8
ClinVar
Risk Rs1057516962(-;-)
Alt Rs1057516962(-;-)
Reference Rs1057516962(T;T)
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.3384905delT
CLNSRC
CLNACC RCV000410405.1,