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rs794728009

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794728009(-;-)
Make rs794728009(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position177434388
GeneAGA
is asnp
is mentioned by
dbSNPrs794728009
ebirs794728009
HLIrs794728009
Exacrs794728009
Varsomers794728009
Maprs794728009
PheGenIrs794728009
hapmaprs794728009
1000 genomesrs794728009
hgdprs794728009
ensemblrs794728009
gopubmedrs794728009
geneviewrs794728009
scholarrs794728009
googlers794728009
pharmgkbrs794728009
gwascentralrs794728009
openSNPrs794728009
23andMers794728009
23andMe allrs794728009
SNP Nexus

SNPshotrs794728009
SNPdbers794728009
MSV3drs794728009
GWAS Ctlgrs794728009
Max Magnitude0
ClinVar
Risk rs794728009(;)
Alt rs794728009(;)
Reference rs794728009(T;T)
Significance Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178355542delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000252.4,