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rs375736464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 Canavan disease (predicted)
(A;C) 3 Carrier of a Canavan disease mutation
(C;C) 0 common in clinvar
Make rs375736464(C;T)
Make rs375736464(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3499013
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs375736464
dbSNP (classic)rs375736464
ClinGenrs375736464
ebirs375736464
HLIrs375736464
Exacrs375736464
Gnomadrs375736464
Varsomers375736464
LitVarrs375736464
Maprs375736464
PheGenIrs375736464
Biobankrs375736464
1000 genomesrs375736464
hgdprs375736464
ensemblrs375736464
geneviewrs375736464
scholarrs375736464
googlers375736464
pharmgkbrs375736464
gwascentralrs375736464
openSNPrs375736464
23andMers375736464
SNPshotrs375736464
SNPdbers375736464
MSV3drs375736464
GWAS Ctlgrs375736464
Max Magnitude8
ClinVar
Risk Rs375736464(A;A) rs375736464(T;T)
Alt Rs375736464(A;A) rs375736464(T;T)
Reference Rs375736464(C;C)
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.3402307C>A
CLNSRC
CLNACC RCV000409473.1,