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: rs1057520558
rs1057520558
KCNH2
1 1.000 0.120 7 150947453 stop gained G/C snv 0.700 0
dbSNP: rs1060500623
rs1060500623
KCNQ1
1 1.000 0.120 11 2445295 frameshift variant C/- delins 0.700 0
dbSNP: rs1060500626
rs1060500626
KCNQ1
1 1.000 0.120 11 2572069 frameshift variant AGGCTCCTGG/- delins 0.700 0
dbSNP: rs1060500628
rs1060500628
KCNQ1
1 1.000 0.120 11 2572062 stop gained G/T snv 0.700 0
dbSNP: rs1060500629
rs1060500629
KCNQ1
1 1.000 0.120 11 2587616 stop gained G/A snv 0.700 0
dbSNP: rs1060500661
rs1060500661
KCNH2
1 1.000 0.120 7 150951698 frameshift variant G/- delins 0.700 0
dbSNP: rs1060500662
rs1060500662
KCNH2
1 1.000 0.120 7 150950200 frameshift variant -/TC delins 0.700 0
dbSNP: rs1060502318
rs1060502318
CAV3 ; SSUH2
1 1.000 0.120 3 8733882 frameshift variant GG/- del 7.0E-06 0.700 0
dbSNP: rs1064793434
rs1064793434
KCNH2
1 1.000 0.120 7 150948978 frameshift variant C/- delins 0.700 0
dbSNP: rs1064794793
rs1064794793
KCNH2
1 1.000 0.120 7 150950983 stop gained G/A snv 0.700 0
dbSNP: rs1085307620
rs1085307620
KCNH2
1 1.000 0.120 7 150958306 frameshift variant TGCCA/G delins 0.700 0
dbSNP: rs121434500
rs121434500
SNTA1
5 0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs121912508
rs121912508
KCNH2
2 0.925 0.120 7 150951649 missense variant G/A snv 0.700 0
dbSNP: rs121912997
rs121912997
DSP
3 0.925 0.160 6 7579989 stop gained C/G;T snv 0.700 0
dbSNP: rs12720458
rs12720458
KCNQ1
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs1435990592
rs1435990592
KCNQ1
1 1.000 0.120 11 2445295 frameshift variant CGGCCGCGCCC/- delins 0.700 0
dbSNP: rs1464992494
rs1464992494
KCNQ1 ; KCNQ1-AS1
1 1.000 0.120 11 2847874 frameshift variant -/G delins 0.700 0
dbSNP: rs1554424079
rs1554424079
KCNH2
1 1.000 0.120 7 150947381 frameshift variant -/GC delins 0.700 0
dbSNP: rs1554424083
rs1554424083
KCNH2
1 1.000 0.120 7 150947383 frameshift variant -/ACCCG delins 0.700 0
dbSNP: rs1554424138
rs1554424138
KCNH2
1 1.000 0.120 7 150947426 frameshift variant G/- delins 0.700 0
dbSNP: rs1554424671
rs1554424671
KCNH2
1 1.000 0.120 7 150948478 frameshift variant -/T delins 0.700 0
dbSNP: rs1554425149
rs1554425149
KCNH2
1 1.000 0.120 7 150950163 missense variant C/A snv 0.700 0
dbSNP: rs1554425226
rs1554425226
KCNH2
1 1.000 0.120 7 150950249 inframe deletion ATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGC/- delins 0.700 0
dbSNP: rs1554425284
rs1554425284
KCNH2
1 1.000 0.120 7 150950347 frameshift variant -/A delins 0.700 0
dbSNP: rs1554425320
rs1554425320
KCNH2
1 1.000 0.120 7 150950421 splice acceptor variant CTG/TT delins 0.700 0