rs199472957, 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 150951507 missense variant T/A;C;G snv 0.800 1.000 24 1995 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 7 150951507 missense variant T/A;C;G snv 0.700 1.000 14 1998 2016
Short QT Syndrome 1
CUI: C1865020
Disease: Short QT Syndrome 1
6 0.882 0.120 7 150951507 missense variant T/A;C;G snv 0.700 0