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rs1057517450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8 Canavan disease (predicted)
(-;AGAA) 3 Carrier of a Canavan disease mutation
(AAAG;AAAG) 0 common in clinvar
(AGAA;AGAA) 0 common/normal
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3499022
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057517450
dbSNP (classic)rs1057517450
ClinGenrs1057517450
ebirs1057517450
HLIrs1057517450
Exacrs1057517450
Gnomadrs1057517450
Varsomers1057517450
LitVarrs1057517450
Maprs1057517450
PheGenIrs1057517450
Biobankrs1057517450
1000 genomesrs1057517450
hgdprs1057517450
ensemblrs1057517450
geneviewrs1057517450
scholarrs1057517450
googlers1057517450
pharmgkbrs1057517450
gwascentralrs1057517450
openSNPrs1057517450
23andMers1057517450
23andMe allrs1057517450
SNPshotrs1057517450
SNPdbers1057517450
MSV3drs1057517450
GWAS Ctlgrs1057517450
Max Magnitude8
ClinVar
Risk Rs1057517450(-;-)
Alt Rs1057517450(-;-)
Reference Rs1057517450(AAAG;AAAG)
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.3402316_3402319delAGAA
CLNSRC
CLNACC RCV000409212.1,