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rs1057516498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8 Canavan disease (predicted)
(-;CC) 3 Carrier of a Canavan disease mutation
(CC;CC) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3494365
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057516498
dbSNP (old)rs1057516498
ClinGenrs1057516498
ebirs1057516498
HLIrs1057516498
Exacrs1057516498
Gnomadrs1057516498
Varsomers1057516498
LitVarrs1057516498
Maprs1057516498
PheGenIrs1057516498
Biobankrs1057516498
1000 genomesrs1057516498
hgdprs1057516498
ensemblrs1057516498
gopubmedrs1057516498
geneviewrs1057516498
scholarrs1057516498
googlers1057516498
pharmgkbrs1057516498
gwascentralrs1057516498
openSNPrs1057516498
23andMers1057516498
23andMe allrs1057516498
SNPshotrs1057516498
SNPdbers1057516498
MSV3drs1057516498
GWAS Ctlgrs1057516498
Max Magnitude8
ClinVar
Risk Rs1057516498(-;-)
Alt Rs1057516498(-;-)
Reference Rs1057516498(CC;CC)
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.3397659_3397660delCC
CLNSRC
CLNACC RCV000409139.1,