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.
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
698 0.882 0.280 11 108326116 frameshift variant -/T delins 0.700 1.000 1 1999 1999
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.280 11 108326116 frameshift variant -/T delins 0.700 1.000 1 1999 1999
Nonmedullary Thyroid Carcinoma
CUI: C3501843
Disease: Nonmedullary Thyroid Carcinoma
3 0.882 0.280 11 108326116 frameshift variant -/T delins 0.700 0
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.882 0.280 11 108326116 frameshift variant -/T delins 0.700 0