Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037834
rs886037834
Entrez Id: 168507
Gene Symbol: PKD1L1
PKD1L1
CUI: C4023272
Disease:
Congenitally corrected transposition of the great arteries with ventricular septal defect
G 0.700 GeneticVariation CLINVAR Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016