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rs1057516879

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 8 Canavan disease (predicted)
(C;T) 3 Carrier of a Canavan disease mutation
(T;T) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3476161
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057516879
dbSNP (classic)rs1057516879
ClinGenrs1057516879
ebirs1057516879
HLIrs1057516879
Exacrs1057516879
Gnomadrs1057516879
Varsomers1057516879
LitVarrs1057516879
Maprs1057516879
PheGenIrs1057516879
Biobankrs1057516879
1000 genomesrs1057516879
hgdprs1057516879
ensemblrs1057516879
geneviewrs1057516879
scholarrs1057516879
googlers1057516879
pharmgkbrs1057516879
gwascentralrs1057516879
openSNPrs1057516879
23andMers1057516879
23andMe allrs1057516879
SNPshotrs1057516879
SNPdbers1057516879
MSV3drs1057516879
GWAS Ctlgrs1057516879
Max Magnitude8
ClinVar
Risk Rs1057516879(C;C)
Alt Rs1057516879(C;C)
Reference Rs1057516879(T;T)
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.3379455T>C
CLNSRC
CLNACC RCV000411719.1,