rs199472713, KCNQ1

N. diseases: 2
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 0.925 0.120 11 2572056 missense variant C/A;T snv 4.0E-06 0.700 1.000 21 1996 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.925 0.120 11 2572056 missense variant C/A;T snv 4.0E-06 0.700 1.000 7 1999 2015