Disease: Jervell-Lange Nielsen Syndrome
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17215500
KCNQ1
0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 5
rs397508112
KCNQ1
0.882 0.120 11 2570638 frameshift variant T/- del 3
rs794728565
KCNQ1
0.882 0.120 11 2527943 frameshift variant G/- delins 3
rs786204778
KCNQ1
0.925 0.120 11 2572891 frameshift variant T/- del 4.0E-06 2