rs199472728, KCNQ1

N. diseases: 2
Source: CURATED ×
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
230 0.925 0.120 11 2572885 missense variant A/G snv 1.8E-04 1.3E-04 0.700 1.000 21 1996 2015
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
13 0.925 0.120 11 2572885 missense variant A/G snv 1.8E-04 1.3E-04 0.700 0