rs199472823, KCNQ1

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.
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.851 0.240 11 2571328 missense variant T/C snv 0.700 0
Myotonic Dystrophy
CUI: C0027126
Disease: Myotonic Dystrophy
4 0.851 0.240 11 2571328 missense variant T/C snv 0.010 1.000 1 2011 2011
MYOTONIC DYSTROPHY 1
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
14 0.851 0.240 11 2571328 missense variant T/C snv 0.010 1.000 1 2011 2011
Syncope
CUI: C0039070
Disease: Syncope
45 0.851 0.240 11 2571328 missense variant T/C snv 0.010 1.000 1 2011 2011
Torsades de Pointes
CUI: C0040479
Disease: Torsades de Pointes
14 0.851 0.240 11 2571328 missense variant T/C snv 0.010 1.000 1 2011 2011