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rs730880311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880311(A;G)
Make rs730880311(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position91356157
GeneAUH
is asnp
is mentioned by
dbSNPrs730880311
dbSNP (classic)rs730880311
ClinGenrs730880311
ebirs730880311
HLIrs730880311
Exacrs730880311
Gnomadrs730880311
Varsomers730880311
LitVarrs730880311
Maprs730880311
PheGenIrs730880311
Biobankrs730880311
1000 genomesrs730880311
hgdprs730880311
ensemblrs730880311
geneviewrs730880311
scholarrs730880311
googlers730880311
pharmgkbrs730880311
gwascentralrs730880311
openSNPrs730880311
23andMers730880311
SNPshotrs730880311
SNPdbers730880311
MSV3drs730880311
GWAS Ctlgrs730880311
Max Magnitude0
ClinVar
Risk rs730880311(G;G)
Alt rs730880311(G;G)
Reference Rs730880311(A;A)
Significance Pathogenic
Disease 3-Methylglutaconic aciduria
Variation info
Gene AUH
CLNDBN 3-Methylglutaconic aciduria
Reversed 1
HGVS NC_000009.11:g.94118439T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009626.4,