rs1554958045, 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.
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 1.000 0.080 11 2445213 stop gained G/T snv 0.700 1.000 1 2017 2017
Jervell And Lange-Nielsen Syndrome 1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
23 1.000 0.080 11 2445213 stop gained G/T snv 0.700 1.000 1 2017 2017
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
12 1.000 0.080 11 2445213 stop gained G/T snv 0.700 1.000 1 2017 2017