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rs1057517085

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8 Canavan disease (predicted)
(-;GT) 3 Carrier of a Canavan disease mutation
(GT;GT) 0 common/normal
(TG;TG) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3498973
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057517085
dbSNP (old)rs1057517085
ClinGenrs1057517085
ebirs1057517085
HLIrs1057517085
Exacrs1057517085
Gnomadrs1057517085
Varsomers1057517085
Maprs1057517085
PheGenIrs1057517085
Biobankrs1057517085
1000 genomesrs1057517085
hgdprs1057517085
ensemblrs1057517085
gopubmedrs1057517085
geneviewrs1057517085
scholarrs1057517085
googlers1057517085
pharmgkbrs1057517085
gwascentralrs1057517085
openSNPrs1057517085
23andMers1057517085
23andMe allrs1057517085
SNPshotrs1057517085
SNPdbers1057517085
MSV3drs1057517085
GWAS Ctlgrs1057517085
Max Magnitude8
ClinVar
Risk Rs1057517085(-;-)
Alt Rs1057517085(-;-)
Reference Rs1057517085(TG;TG)
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.3402267_3402268delGT
CLNSRC
CLNACC RCV000411691.1,