Source: CLINVAR ×
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.
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
142 1.000 0.120 9 95125136 stop gained G/A;C snv 4.0E-06 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 1.000 0.120 9 95125136 stop gained G/A;C snv 4.0E-06 0.700 0