rs199472990, 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 0.120 7 150950312 missense variant G/A snv 7.0E-06 0.700 1.000 20 1995 2009
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.882 0.120 7 150950312 missense variant G/A snv 7.0E-06 0.700 1.000 9 2000 2018
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 7 150950312 missense variant G/A snv 7.0E-06 0.700 1.000 8 2000 2018