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: rs74315445
rs74315445
KCNE1
6 0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05 0.710 1.000 12 1997 2014
dbSNP: rs1805128
rs1805128
KCNE1
10 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.750 1.000 9 2000 2018
dbSNP: rs1555843953
rs1555843953
KCNE1
1 1.000 0.120 21 34449430 frameshift variant TGGA/- del 0.700 1.000 6 1997 2014
dbSNP: rs1131691762
rs1131691762
KCNE1
1 1.000 0.120 21 34449622 frameshift variant -/A delins 4.0E-06 0.700 1.000 4 1997 2014
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.020 1.000 2 2016 2017
dbSNP: rs199473354
rs199473354
KCNE1
1 1.000 0.120 21 34449481 missense variant C/T snv 0.020 1.000 2 2003 2016
dbSNP: rs199473647
rs199473647
KCNE1
2 0.925 0.120 21 34449256 missense variant G/T snv 0.010 1.000 1 2014 2014
dbSNP: rs74315446
rs74315446
KCNE1
4 0.851 0.120 21 34449414 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 1998 1998
dbSNP: rs74315447
rs74315447
KCNE2 ; LOC105372791
3 0.925 0.120 21 34370639 missense variant T/C snv 2.6E-04 2.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs139467962
rs139467962
SNTA1
2 1.000 0.120 20 33412702 missense variant G/A snv 1.6E-05 4.9E-05 0.010 1.000 1 2013 2013
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: rs1085307479
rs1085307479
CALM1
1 1.000 0.120 14 90404691 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs199744595
rs199744595
CALM1
2 0.925 0.120 14 90404693 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs267607277
rs267607277
CALM1
6 0.807 0.120 14 90404386 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs730882252
rs730882252
CALM1
3 0.882 0.120 14 90404482 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs79891110
rs79891110
CACNA1C
6 0.807 0.320 12 2504944 stop gained G/A;T snv 0.710 1.000 12 2004 2016
dbSNP: rs587782933
rs587782933
CACNA1C
5 0.827 0.200 12 2504526 missense variant G/A snv 0.700 1.000 6 2005 2016
dbSNP: rs786205748
rs786205748
CACNA1C
1 1.000 0.120 12 2566465 missense variant C/T snv 0.710 1.000 2 2015 2019
dbSNP: rs1343191564
rs1343191564
CACNA1C ; CACNA1C-AS1
1 1.000 0.120 12 2688616 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs377564636
rs377564636
CACNA1C ; CACNA1C-AS1
1 1.000 0.120 12 2679529 missense variant G/A snv 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs749945590
rs749945590
CACNA1C ; CACNA1C-AS1
1 1.000 0.120 12 2688601 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs750835733
rs750835733
CACNA1C
1 1.000 0.120 12 2593252 missense variant C/G;T snv 4.0E-06 0.710 1.000 1 2013 2013
dbSNP: rs786205745
rs786205745
CACNA1C
6 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs199472815
rs199472815
KCNQ1
4 0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05 0.700 1.000 16 2000 2014
dbSNP: rs199473456
rs199473456
KCNQ1
3 0.882 0.120 11 2571394 missense variant C/T snv 1.2E-05 0.700 1.000 15 1999 2015