Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 17
rs104894021
KCNH2
0.851 0.120 7 150951629 missense variant G/C;T snv 4
rs121912507
KCNH2
0.882 0.120 7 150951511 missense variant C/G;T snv 4
rs199472936
KCNH2
0.882 0.120 7 150951592 missense variant C/A;T snv 4
rs121912504
KCNH2
0.851 0.200 7 150951711 missense variant G/A snv 4
rs1254179611
KCNH2
1.000 0.120 7 150958295 missense variant G/A snv 3
rs773724817
KCNH2
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 3
rs1805120
KCNH2
0.882 0.080 7 150952443 synonymous variant G/A snv 0.30 0.26 3
rs199473039
KCNH2
0.851 0.120 7 150951512 missense variant G/A;C;T snv 9.5E-05 3
rs199472954
KCNH2
0.882 0.120 7 150951514 missense variant A/G;T snv 3
rs28928905
KCNH2
0.851 0.120 7 150952514 missense variant C/G;T snv 3
rs199472910
KCNH2
0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05 3
rs762510312
KCNH2
0.925 0.120 7 150946956 missense variant G/A;C snv 4.8E-05; 1.2E-05 3
rs199473522
KCNH2
0.882 0.120 7 150951583 missense variant C/T snv 3
rs199473024
KCNH2
7 150947362 missense variant T/C snv 7.0E-06 2
rs956828658
KCNH2
0.925 0.120 7 150958281 missense variant G/A snv 2.8E-05 2
rs2968857
KCNH2
1.000 0.080 7 150965242 intron variant C/T snv 0.70 2
rs755834128
KCNH2
0.925 0.120 7 150952535 missense variant C/T snv 2.8E-05 7.0E-06 2
rs199472904
KCNH2
0.925 0.160 7 150952595 missense variant A/G snv 2
rs199472968
KCNH2
0.925 0.120 7 150951484 missense variant C/T snv 2
rs1380382303
KCNH2
0.925 0.120 7 150950989 synonymous variant G/A snv 7.0E-06 2
rs9333649
KCNH2
0.882 0.200 7 150951679 missense variant C/A;G;T snv 2
rs199472921
KCNH2
0.882 0.120 7 150951712 missense variant C/G;T snv 2