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.
Profound Mental Retardation
CUI: C0020796
Disease: Profound Mental Retardation
3 0.882 0.160 X 119870713 stop gained G/A snv 0.010 1.000 1 2020 2020
TESTES, RUDIMENTARY
CUI: C1848901
Disease: TESTES, RUDIMENTARY
1 0.882 0.160 X 119870713 stop gained G/A snv 0.010 1.000 1 2020 2020
TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
1 0.882 0.160 X 119870713 stop gained G/A snv 0.700 0