rs745605543, KCNQ4

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.
Jervell-Lange Nielsen Syndrome
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
15 0.925 0.120 1 40784314 missense variant C/T snv 2.7E-05 7.0E-06 0.010 1.000 1 2006 2006
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.925 0.120 1 40784314 missense variant C/T snv 2.7E-05 7.0E-06 0.010 1.000 1 2006 2006