rs528302390, PKD1L1

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.
Congenital atresia of pulmonary artery
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
5 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016
Double Outlet Right Ventricle
CUI: C0013069
Disease: Double Outlet Right Ventricle
16 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016
Indeterminate atrial arrangement
CUI: C3164429
Disease: Indeterminate atrial arrangement
1 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016
Right aortic arch (disorder)
CUI: C0035615
Disease: Right aortic arch (disorder)
1 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016
Situs Inversus
CUI: C0037221
Disease: Situs Inversus
6 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016
Situs inversus totalis
CUI: C4551493
Disease: Situs inversus totalis
8 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016
Transposition of Great Vessels
CUI: C0040761
Disease: Transposition of Great Vessels
18 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016
Unbalanced atrioventricular canal defect
CUI: C3280940
Disease: Unbalanced atrioventricular canal defect
1 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016
HETEROTAXY, VISCERAL, 8, AUTOSOMAL
CUI: C4310668
Disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
2 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 0