Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554425486
rs1554425486
KCNH2
1 1.000 0.120 7 150951004 stop gained G/A snv 0.700 0
dbSNP: rs1554425527
rs1554425527
KCNH2
1 1.000 0.120 7 150951065 stop gained -/T delins 0.700 0
dbSNP: rs1554426219
rs1554426219
KCNH2
1 1.000 0.120 7 150952646 frameshift variant -/A delins 0.700 0
dbSNP: rs1554427943
rs1554427943
KCNH2
1 1.000 0.120 7 150958439 frameshift variant ACGACTCCCGGGCCGTCAGCGCCAG/- delins 0.700 0
dbSNP: rs1554428170
rs1554428170
KCNH2
1 1.000 0.120 7 150959574 frameshift variant G/- delins 0.700 0
dbSNP: rs1554428173
rs1554428173
KCNH2
1 1.000 0.120 7 150959583 stop gained C/T snv 0.700 0
dbSNP: rs1554430908
rs1554430908
KCNH2
1 1.000 0.120 7 150974767 frameshift variant ATCTGCGCGGCAGCGCGGCGCTGCGTGCGCG/- delins 0.700 0
dbSNP: rs1554431441
rs1554431441
KCNH2
1 1.000 0.120 7 150977847 frameshift variant -/A delins 0.700 0
dbSNP: rs1554893228
rs1554893228
KCNQ1
1 1.000 0.120 11 2572899 stop gained C/G snv 0.700 0
dbSNP: rs1554958043
rs1554958043
KCNQ1
1 1.000 0.120 11 2445192 stop gained A/T snv 0.700 0
dbSNP: rs1554958132
rs1554958132
KCNQ1
1 1.000 0.120 11 2445478 frameshift variant -/GC delins 0.700 0
dbSNP: rs1563145763
rs1563145763
AKAP9
1 1.000 0.120 7 92099838 stop gained G/A snv 0.700 0
dbSNP: rs1563161565
rs1563161565
KCNH2
1 1.000 0.120 7 150952849 frameshift variant AG/- del 0.700 0
dbSNP: rs1563169296
rs1563169296
KCNH2
1 1.000 0.120 7 150958048 splice donor variant CCCTCACCGGTGCTGGCG/- delins 0.700 0
dbSNP: rs1564820786
rs1564820786
KCNQ1
1 1.000 0.120 11 2572062 frameshift variant ACCTGGAGGC/- delins 0.700 0
dbSNP: rs1564825414
rs1564825414
KCNQ1
1 1.000 0.120 11 2585305 stop gained C/T snv 0.700 0
dbSNP: rs199472705
rs199472705
KCNQ1
2 0.925 0.120 11 2571345 missense variant T/C snv 0.700 0
dbSNP: rs199472710
rs199472710
KCNQ1
2 0.925 0.120 11 2572033 missense variant T/A snv 0.700 0
dbSNP: rs199472726
rs199472726
KCNQ1
2 0.925 0.120 11 2572880 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs199472758
rs199472758
KCNQ1
2 0.925 0.120 11 2583526 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs199472760
rs199472760
KCNQ1
2 0.925 0.120 11 2583537 missense variant C/T snv 0.700 0
dbSNP: rs199472768
rs199472768
KCNQ1
2 0.925 0.120 11 2587576 missense variant T/C;G snv 0.700 0
dbSNP: rs199472771
rs199472771
KCNQ1
2 0.925 0.120 11 2587581 missense variant G/A;T snv 0.700 0
dbSNP: rs199472804
rs199472804
KCNQ1
2 0.925 0.120 11 2776997 missense variant C/A;T snv 0.700 0
dbSNP: rs199472836
rs199472836
KCNH2
2 0.925 0.120 7 150974890 missense variant T/C snv 0.700 0