rs1057518944, NIPBL

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Single umbilical artery
CUI: C1384670
Disease: Single umbilical artery
5 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
Congenital hypoplasia of lung
CUI: C0265783
Disease: Congenital hypoplasia of lung
6 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
Microretrognathia
CUI: C1839546
Disease: Microretrognathia
6 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
Right Ventricular Hypertrophy
CUI: C0162770
Disease: Right Ventricular Hypertrophy
6 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
31 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0