rs481931, ABCA4

N. diseases: 3
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 0.882 0.120 1 94104460 intron variant G/T snv 0.32 0.800 1.000 2 2010 2017
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
158 0.882 0.120 1 94104460 intron variant G/T snv 0.32 0.700 1.000 1 2017 2017
Microdontia (disorder)
CUI: C0240340
Disease: Microdontia (disorder)
6 0.882 0.120 1 94104460 intron variant G/T snv 0.32 0.010 1.000 1 2012 2012