present in Gene: ABCA4
present in Chromosome: 1
Position on Chromosome: 94104460
Alleles of this Variant: G/T
rs481931 in
ABCA4 gene and
Cleft Palate
PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.
rs481931 in
ABCA4 gene and
Cleft upper lip
PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.