ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Cleft upper lip ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs560426
rs560426
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0008924
Disease:
Cleft upper lip 		G 0.710 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734 2012
dbSNP: rs560426
rs560426
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0008924
Disease:
Cleft upper lip 		0.710 GeneticVariation GWASDB SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. 20436469 2010
dbSNP: rs560426
rs560426
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0008924
Disease:
Cleft upper lip 		0.710 GeneticVariation BEFREE SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. 20436469 2010