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.
FANCONI ANEMIA, COMPLEMENTATION GROUP C
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
73 0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05 0.700 1.000 10 1993 2014
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05 0.700 1.000 7 1993 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05 0.700 1.000 5 1993 2017
Esophageal atresia with or without tracheoesophageal fistula
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
12 0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05 0.700 0