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.
Bilirubin level result
CUI: C1287365
Disease: Bilirubin level result
478 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.700 1.000 2 2012 2013
Bilirubin measurement
CUI: C0344395
Disease: Bilirubin measurement
535 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.700 1.000 2 2012 2013
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2012 2012
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
213 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2006 2006
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2012 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2018 2018
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
19 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2013 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2013 2013
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2012 2012
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2012 2012
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2017 2017