rs121964956, 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 0.080 4 158682399 missense variant T/A;C snv 8.0E-06; 4.0E-06 0.800 1.000 6 2003 2010
GLUTARIC ACIDEMIA IIC
CUI: C3278156
Disease: GLUTARIC ACIDEMIA IIC
4 0.925 0.080 4 158682399 missense variant T/A;C snv 8.0E-06; 4.0E-06 0.700 0