rs1285524167, ABCC8

N. diseases: 8
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.
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
33 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.020 1.000 2 2006 2009
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
36 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
28 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006