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rs1057517291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a Canavan disease mutation
(T;T) 8 Canavan disease (predicted)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3481602
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057517291
dbSNP (old)rs1057517291
ClinGenrs1057517291
ebirs1057517291
HLIrs1057517291
Exacrs1057517291
Gnomadrs1057517291
Varsomers1057517291
Maprs1057517291
PheGenIrs1057517291
Biobankrs1057517291
1000 genomesrs1057517291
hgdprs1057517291
ensemblrs1057517291
gopubmedrs1057517291
geneviewrs1057517291
scholarrs1057517291
googlers1057517291
pharmgkbrs1057517291
gwascentralrs1057517291
openSNPrs1057517291
23andMers1057517291
23andMe allrs1057517291
SNPshotrs1057517291
SNPdbers1057517291
MSV3drs1057517291
GWAS Ctlgrs1057517291
Max Magnitude8
ClinVar
Risk Rs1057517291(T;T)
Alt Rs1057517291(T;T)
Reference Rs1057517291(G;G)
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.3384896G>T
CLNSRC
CLNACC RCV000411599.1,