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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
8 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.800 1.000 6 2011 2018
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 1.000 4 2011 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 1.000 4 2011 2014
Congenital hypoplasia of lung
CUI: C0265783
Disease: Congenital hypoplasia of lung
6 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 0
Hydrops Fetalis, Non-Immune
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
22 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 0
Mixed respiratory and metabolic acidosis
CUI: C1840372
Disease: Mixed respiratory and metabolic acidosis
3 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 0
Pericardial effusion
CUI: C0031039
Disease: Pericardial effusion
10 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 0
Pleural effusion disorder
CUI: C0032227
Disease: Pleural effusion disorder
14 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 0
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.010 1.000 1 2019 2019
Infantile cardiomyopathy
CUI: C1854776
Disease: Infantile cardiomyopathy
1 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.010 1 2019 2019