rs1177389968, ETFDH

N. diseases: 2
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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
45 0.925 0.160 4 158684619 missense variant G/A snv 7.0E-06 0.020 1.000 2 2017 2019
Myopathy with Abnormal Lipid Metabolism
CUI: C0410214
Disease: Myopathy with Abnormal Lipid Metabolism
2 0.925 0.160 4 158684619 missense variant G/A snv 7.0E-06 0.010 1.000 1 2010 2010