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.
Bamforth syndrome
CUI: C1855794
Disease: Bamforth syndrome
3 0.851 0.280 9 97854084 missense variant G/A snv 0.800 1.000 4 1998 2014
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
158 0.851 0.280 9 97854084 missense variant G/A snv 0.010 1.000 1 2002 2002
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.851 0.280 9 97854084 missense variant G/A snv 0.010 1.000 1 2002 2002
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.851 0.280 9 97854084 missense variant G/A snv 0.010 1.000 1 2002 2002