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.
Anomalous pulmonary artery
CUI: C0009681
Disease: Anomalous pulmonary artery
1 0.925 0.160 9 127824414 frameshift variant ATCGGTGCGG/- delins 0.700 0
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.925 0.160 9 127824414 frameshift variant ATCGGTGCGG/- delins 0.700 0
Telangiectasia of the skin
CUI: C4022018
Disease: Telangiectasia of the skin
3 0.925 0.160 9 127824414 frameshift variant ATCGGTGCGG/- delins 0.700 0
Telangiectasia, Hereditary Hemorrhagic, Type 1
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
32 0.925 0.160 9 127824414 frameshift variant ATCGGTGCGG/- delins 0.700 0