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.
Bardet-Biedl syndrome 1 (disorder)
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
65 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 1.000 2 2011 2014
Apraxia of Phonation
CUI: C0264611
Disease: Apraxia of Phonation
9 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
Overweight
CUI: C0497406
Disease: Overweight
3 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
Severe myopia
CUI: C0271183
Disease: Severe myopia
116 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0