rs199473428, KCNH2

N. diseases: 4
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 0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06 0.800 1.000 24 1995 2012
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06 0.710 1.000 4 2000 2019
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 5 1999 2015
Short QT Syndrome 1
CUI: C1865020
Disease: Short QT Syndrome 1
6 0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 4 1999 2012