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rs28940574

From SNPedia

Canavan disease
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Canavan disease
(A;C) 2.5 carrier for Canavan disease
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position3499060
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs28940574
ebirs28940574
HLIrs28940574
Exacrs28940574
Varsomers28940574
Maprs28940574
PheGenIrs28940574
hapmaprs28940574
1000 genomesrs28940574
hgdprs28940574
ensemblrs28940574
gopubmedrs28940574
geneviewrs28940574
scholarrs28940574
googlers28940574
pharmgkbrs28940574
gwascentralrs28940574
openSNPrs28940574
23andMers28940574
23andMe allrs28940574
SNP Nexus

SNPshotrs28940574
SNPdbers28940574
MSV3drs28940574
GWAS Ctlgrs28940574
Max Magnitude5

rs28940574, also known as A305E or Ala305Glu, is a SNP in the ASPA gene.

rs28940574 is one of several known causal SNPs of Canavan disease.

OMIM608034
DescCanavan disease
Variant0003
Relatedalso
Neighborrs28940279
Distance60


ClinVar
Risk rs28940574(A;A)
Alt rs28940574(A;A)
Reference rs28940574(C;C)
Significance 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.3402354C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002725.2,