rs9333649, KCNH2

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.
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
267 0.882 0.200 7 150951679 missense variant C/A;G;T snv 0.800 1.000 4 2011 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.200 7 150951679 missense variant C/A;G;T snv 0.720 1.000 6 2000 2016
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
28 0.882 0.200 7 150951679 missense variant C/A;G;T snv 0.010 1.000 1 2000 2000