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.
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 0.810 1.000 4 2010 2019
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
158 0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 0.710 0.500 2 2010 2015
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
37 0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 0.010 1.000 1 2019 2019
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 0.010 1 2010 2010
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 0.010 1 2010 2010