rs398123278, MMUT

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Methylmalonic acidemia
CUI: C0268583
Disease: Methylmalonic acidemia
35 0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 0.700 1.000 2 2006 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
169 0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 0.700 1.000 2 2006 2016
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 0.700 0
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 0.700 0