rs786204778, 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.
Jervell-Lange Nielsen Syndrome
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
15 0.925 0.120 11 2572891 frameshift variant T/- del 4.0E-06 0.700 0
Romano-Ward Syndrome
CUI: C0035828
Disease: Romano-Ward Syndrome
17 0.925 0.120 11 2572891 frameshift variant T/- del 4.0E-06 0.700 0