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.
Abnormal renal morphology
CUI: C4551596
Disease: Abnormal renal morphology
3 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018