rs770418305, NEK4

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.
Ciliopathies
CUI: C4277690
Disease: Ciliopathies
7 1.000 0.040 3 52741486 frameshift variant -/T delins 2.4E-05 1.4E-05 0.700 0
Mild splenomegaly
CUI: C1865190
Disease: Mild splenomegaly
1 1.000 0.040 3 52741486 frameshift variant -/T delins 2.4E-05 1.4E-05 0.700 0
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 1.000 0.040 3 52741486 frameshift variant -/T delins 2.4E-05 1.4E-05 0.700 0