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: rs773204795
rs773204795
TECRL
3 0.882 0.120 4 64309896 missense variant C/T snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs778914298
rs778914298
CAV3 ; SSUH2
1 1.000 0.120 3 8733883 frameshift variant GAAGAGCA/- delins 3.5E-05 0.700 0
dbSNP: rs779760381
rs779760381
SLC2A5
1 1.000 0.120 1 9039877 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs786204101
rs786204101
KCNH2
1 1.000 0.120 7 150947670 frameshift variant -/G delins 0.700 0
dbSNP: rs794728401
rs794728401
KCNH2
1 1.000 0.120 7 150947478 stop gained C/G;T snv 0.700 0
dbSNP: rs794728403
rs794728403
KCNH2
1 1.000 0.120 7 150947440 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs794728425
rs794728425
KCNH2
2 1.000 0.120 7 150958220 frameshift variant -/GGCGATGGGAGCTGGCCGGG delins 0.700 0
dbSNP: rs794728442
rs794728442
KCNH2
1 1.000 0.120 7 150951478 inframe deletion TCT/- delins 0.700 0
dbSNP: rs794728449
rs794728449
KCNH2
1 1.000 0.120 7 150947842 frameshift variant -/GCCCC delins 0.700 0
dbSNP: rs794728458
rs794728458
KCNH2
1 1.000 0.120 7 150947785 frameshift variant -/C delins 0.700 0
dbSNP: rs794728466
rs794728466
KCNH2
1 1.000 0.120 7 150947371 frameshift variant CCGGGGCCGCC/-;CCGGGGCCGCCCCGGGGCCGCC delins 1.4E-05 0.700 0
dbSNP: rs794728470
rs794728470
KCNH2
2 1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05 0.700 0
dbSNP: rs794728502
rs794728502
KCNH2
1 1.000 0.120 7 150947833 frameshift variant GGCCC/-;GGCCCGGCCC delins 0.700 0
dbSNP: rs794728508
rs794728508
KCNH2
2 1.000 0.120 7 150974864 frameshift variant A/- del 0.700 0
dbSNP: rs794728524
rs794728524
KCNQ1
1 1.000 0.120 11 2585228 missense variant G/T snv 0.700 0
dbSNP: rs794728531
rs794728531
KCNQ1
2 0.925 0.120 11 2776055 splice donor variant G/A snv 0.700 0
dbSNP: rs794728558
rs794728558
KCNQ1 ; KCNQ1OT1
1 1.000 0.120 11 2662012 frameshift variant C/- delins 8.0E-06 0.700 0
dbSNP: rs794728571
rs794728571
KCNQ1
1 1.000 0.120 11 2585260 stop gained C/T snv 0.700 0
dbSNP: rs796052166
rs796052166
KCNQ1
1 1.000 0.120 11 2571405 splice donor variant T/G snv 0.700 0
dbSNP: rs796052171
rs796052171
CAV3 ; SSUH2
1 1.000 0.120 3 8733913 missense variant A/T snv 0.700 0
dbSNP: rs796052195
rs796052195
KCNH2
1 1.000 0.120 7 150951544 missense variant A/G snv 0.700 0
dbSNP: rs796052196
rs796052196
KCNH2
1 1.000 0.120 7 150974709 splice donor variant A/T snv 0.700 0
dbSNP: rs796052197
rs796052197
ANK2
1 1.000 0.120 4 113354767 missense variant T/C snv 0.700 0
dbSNP: rs796052198
rs796052198
ANK2
1 1.000 0.120 4 113356741 missense variant T/C snv 0.700 0
dbSNP: rs796052199
rs796052199
AKAP9
1 1.000 0.120 7 92002212 missense variant T/A snv 0.700 0