rs751569508, NCOR1

N. diseases: 5
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.
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 0.700 0
Hyperlaxity
CUI: C3810428
Disease: Hyperlaxity
1 1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 0.700 0
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 0.700 0
Thin skin
CUI: C0423757
Disease: Thin skin
4 1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 0.700 0