rs199472921, KCNH2

N. diseases: 5
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 150951712 missense variant C/G;T snv 0.700 1.000 20 1995 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.120 7 150951712 missense variant C/G;T snv 0.700 1.000 14 1999 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.882 0.120 7 150951712 missense variant C/G;T snv 0.700 1.000 14 1999 2016
cardiac event
CUI: C0741923
Disease: cardiac event
18 0.882 0.120 7 150951712 missense variant C/G;T snv 0.010 1.000 1 1996 1996
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 7 150951712 missense variant C/G;T snv 0.010 1.000 1 2015 2015