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rs730880312

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880312(A;G)
Make rs730880312(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position91214427
GeneAUH
is asnp
is mentioned by
dbSNPrs730880312
ebirs730880312
HLIrs730880312
Exacrs730880312
Varsomers730880312
Maprs730880312
PheGenIrs730880312
hapmaprs730880312
1000 genomesrs730880312
hgdprs730880312
ensemblrs730880312
gopubmedrs730880312
geneviewrs730880312
scholarrs730880312
googlers730880312
pharmgkbrs730880312
gwascentralrs730880312
openSNPrs730880312
23andMers730880312
23andMe allrs730880312
SNP Nexus

SNPshotrs730880312
SNPdbers730880312
MSV3drs730880312
GWAS Ctlgrs730880312
Max Magnitude0
ClinVar
Risk rs730880312(G;G)
Alt rs730880312(G;G)
Reference rs730880312(A;A)
Significance Pathogenic
Disease 3-Methylglutaconic aciduria
Variation info
Gene AUH
CLNDBN 3-Methylglutaconic aciduria
Reversed 1
HGVS NC_000009.11:g.93976709T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009627.3,