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.
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
Biventricular hypertrophy
CUI: C0281788
Disease: Biventricular hypertrophy
3 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
7 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
Morphological abnormality of the central nervous system
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
7 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
Renal cyst
CUI: C3887499
Disease: Renal cyst
17 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
Short palpebral fissure
CUI: C0423112
Disease: Short palpebral fissure
16 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0