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.
Choanal Atresia
CUI: C0008297
Disease: Choanal Atresia
7 0.827 0.240 14 36519251 missense variant G/A snv 0.010 1.000 1 1998 1998
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
158 0.827 0.240 14 36519251 missense variant G/A snv 0.010 1.000 1 1998 1998
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.827 0.240 14 36519251 missense variant G/A snv 0.010 1.000 1 1998 1998
Thyroid Agenesis
CUI: C0749420
Disease: Thyroid Agenesis
3 0.827 0.240 14 36519251 missense variant G/A snv 0.010 1.000 1 1998 1998
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.827 0.240 14 36519251 missense variant G/A snv 0.010 1.000 1 1998 1998