rs145536528, SLU7

N. diseases: 3
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 Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 1.000 5 160413521 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2013 2013
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 1.000 5 160413521 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 5 160413521 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2016 2016