rs886037834, PKD1L1

N. diseases: 6
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.
Congenital atresia of pulmonary artery
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
5 0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06 0.700 1.000 1 2016 2016
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
80 0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06 0.010 1.000 1 2016 2016
Congenitally corrected transposition of the great arteries with ventricular septal defect
CUI: C4023272
Disease: Congenitally corrected transposition of the great arteries with ventricular septal defect
1 0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06 0.700 1.000 1 2016 2016
HETEROTAXY, VISCERAL, 8, AUTOSOMAL
CUI: C4310668
Disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
2 0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06 0.800 1.000 1 2016 2016
Paroxysmal atrial fibrillation
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
8 0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06 0.700 1.000 1 2016 2016
Situs inversus totalis
CUI: C4551493
Disease: Situs inversus totalis
8 0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06 0.710 1.000 1 2016 2016