Variant: rs886037834 

    present in Gene: PKD1L1
    present in Chromosome: 7
    Position on Chromosome: 47846960
    Alleles of this Variant: C/G

rs886037834 in PKD1L1 gene and Congenital atresia of pulmonary artery PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs886037834 in PKD1L1 gene and Congenitally corrected transposition of the great arteries with ventricular septal defect PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs886037834 in PKD1L1 gene and HETEROTAXY, VISCERAL, 8, AUTOSOMAL PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs886037834 in PKD1L1 gene and Paroxysmal atrial fibrillation PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs886037834 in PKD1L1 gene and Situs inversus totalis PMID 27616478 2016 In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease.