rs1057518944, NIPBL

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
0.700 GeneticVariation CLINVAR
Congenital hypoplasia of lung
CUI: C0265783
Disease: Congenital hypoplasia of lung
0.700 GeneticVariation CLINVAR
Right Ventricular Hypertrophy
CUI: C0162770
Disease: Right Ventricular Hypertrophy
0.700 GeneticVariation CLINVAR
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
0.700 GeneticVariation CLINVAR
Long philtrum
CUI: C1865014
Disease: Long philtrum
0.700 GeneticVariation CLINVAR
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
0.700 GeneticVariation CLINVAR
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
0.700 GeneticVariation CLINVAR
Single umbilical artery
CUI: C1384670
Disease: Single umbilical artery
0.700 GeneticVariation CLINVAR
Microretrognathia
CUI: C1839546
Disease: Microretrognathia
0.700 GeneticVariation CLINVAR