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rs104894551

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a Canavan disease mutation
(G;G) 8 Canavan disease (predicted)
ReferenceGRCh38 38.1/141
Chromosome17
Position3476230
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs104894551
dbSNP (old)rs104894551
ClinGenrs104894551
ebirs104894551
HLIrs104894551
Exacrs104894551
Gnomadrs104894551
Varsomers104894551
Maprs104894551
PheGenIrs104894551
Biobankrs104894551
1000 genomesrs104894551
hgdprs104894551
ensemblrs104894551
gopubmedrs104894551
geneviewrs104894551
scholarrs104894551
googlers104894551
pharmgkbrs104894551
gwascentralrs104894551
openSNPrs104894551
23andMers104894551
23andMe allrs104894551
SNPshotrs104894551
SNPdbers104894551
MSV3drs104894551
GWAS Ctlgrs104894551
Max Magnitude8

ASPA gene variant; c.71A>G, p.Glu24Gly, E24G

23andMe name: i5006786

OMIM608034
Desc
Variant0010
Relatedalso
ClinVar
Risk Rs104894551(G;G)
Alt Rs104894551(G;G)
Reference Rs104894551(A;A)
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.3379524A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002732.2,