rs481931, ABCA4

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
0.800 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
0.800 GeneticVariation GWASDB A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. 20436469 2010
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
Microdontia (disorder)
CUI: C0240340
Disease: Microdontia (disorder)
0.010 GeneticVariation BEFREE In the case-control data, clefts, supernumerary teeth and familial cancer history were associated with ABCA4-rs481931 on chromosome 1 (p = 2E-19, 0.0007, 2E-06, respectively), and clefts and microdontia were associated with rs1325474 on chromosome 6 (p = 1E-06, 0.0002, respectively). 22496123 2012