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rs104894553

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 mild Canavan disease
(A;G) 3.5 mild Canavan disease carrier
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position3476371
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs104894553
ebirs104894553
HLIrs104894553
Exacrs104894553
Varsomers104894553
Maprs104894553
PheGenIrs104894553
hapmaprs104894553
1000 genomesrs104894553
hgdprs104894553
ensemblrs104894553
gopubmedrs104894553
geneviewrs104894553
scholarrs104894553
googlers104894553
pharmgkbrs104894553
gwascentralrs104894553
openSNPrs104894553
23andMers104894553
23andMe allrs104894553
SNP Nexus

SNPshotrs104894553
SNPdbers104894553
MSV3drs104894553
GWAS Ctlgrs104894553
Max Magnitude4
OMIM608034
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894553(A;A)
Alt rs104894553(A;A)
Reference rs104894553(G;G)
Significance Pathogenic
Disease Canavan disease
Variation info
Gene SPATA22 ASPA
CLNDBN Canavan disease, mild
Reversed 0
HGVS NC_000017.10:g.3379665G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002734.2,