rs199472776, KCNQ1

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 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.882 0.120 11 2587630 missense variant C/G;T snv 4.0E-06; 2.0E-04 0.800 1.000 20 1996 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 11 2587630 missense variant C/G;T snv 4.0E-06; 2.0E-04 0.710 1.000 9 2007 2015
Wolff-Parkinson-White Syndrome
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
22 0.882 0.120 11 2587630 missense variant C/G;T snv 4.0E-06; 2.0E-04 0.700 0