rs121964954, ETFDH

N. diseases: 3
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 0.882 0.160 4 158682269 missense variant G/A snv 1.4E-04 3.5E-05 0.830 1.000 12 2003 2019
GLUTARIC ACIDEMIA IIC
CUI: C3278156
Disease: GLUTARIC ACIDEMIA IIC
4 0.882 0.160 4 158682269 missense variant G/A snv 1.4E-04 3.5E-05 0.700 0
Myopathy with Abnormal Lipid Metabolism
CUI: C0410214
Disease: Myopathy with Abnormal Lipid Metabolism
2 0.882 0.160 4 158682269 missense variant G/A snv 1.4E-04 3.5E-05 0.010 1.000 1 2010 2010