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: rs104894578
rs104894578
KCNJ2
6 0.807 0.280 17 70175691 missense variant C/T snv 0.800 1.000 16 2001 2014
dbSNP: rs104894580
rs104894580
KCNJ2
7 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.800 1.000 12 2001 2013
dbSNP: rs104894585
rs104894585
KCNJ2
5 0.851 0.120 17 70175263 missense variant C/G;T snv 0.810 1.000 11 2001 2015
dbSNP: rs199473377
rs199473377
KCNJ2
2 0.925 0.120 17 70175470 missense variant G/A;C snv 0.720 1.000 10 2001 2019
dbSNP: rs104894579
rs104894579
KCNJ2
1 1.000 0.120 17 70175938 missense variant G/A;C;T snv 0.800 1.000 7 2001 2010
dbSNP: rs104894575
rs104894575
KCNJ2
1 1.000 0.120 17 70175251 missense variant A/T snv 0.810 1.000 6 2001 2018
dbSNP: rs199473373
rs199473373
KCNJ2
3 0.882 0.120 17 70175283 missense variant C/T snv 0.700 1.000 6 2005 2013
dbSNP: rs199473387
rs199473387
KCNJ2
2 1.000 0.120 17 70175952 missense variant A/C;G snv 0.800 1.000 6 2001 2010
dbSNP: rs199473650
rs199473650
KCNJ2
1 1.000 0.120 17 70175200 missense variant G/T snv 0.800 1.000 6 2001 2010
dbSNP: rs104894581
rs104894581
KCNJ2
1 1.000 0.120 17 70175596 missense variant C/T snv 0.800 1.000 5 2001 2007
dbSNP: rs104894582
rs104894582
KCNJ2
1 1.000 0.120 17 70175943 missense variant G/A snv 0.800 1.000 5 2001 2007
dbSNP: rs104894583
rs104894583
KCNJ2
1 1.000 0.120 17 70175685 missense variant A/C snv 0.800 1.000 5 2001 2007
dbSNP: rs199473384
rs199473384
KCNJ2
2 0.925 0.120 17 70175692 missense variant G/A;C;T snv 0.710 1.000 5 2001 2007
dbSNP: rs199473653
rs199473653
KCNJ2
2 0.925 0.120 17 70175284 missense variant G/A snv 0.700 1.000 4 2005 2017
dbSNP: rs199473652
rs199473652
KCNJ2
1 1.000 0.120 17 70175259 missense variant A/G snv 0.020 1.000 2 2006 2008
dbSNP: rs104886142
rs104886142
COL4A5
10 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.010 1.000 1 2007 2007
dbSNP: rs1230871085
rs1230871085
EPHA3
1 1.000 0.120 3 89210149 missense variant C/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1246784896
rs1246784896
EPHA3
1 1.000 0.120 3 89127264 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1805123
rs1805123
KCNH2
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2016 2016
dbSNP: rs199473655
rs199473655
KCNJ2
1 1.000 0.120 17 70175614 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs199473658
rs199473658
KCNJ2
1 1.000 0.120 17 70175960 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs199830292
rs199830292
KCNJ5
3 0.882 0.120 11 128916630 missense variant G/C snv 1.7E-04 7.7E-05 0.700 1.000 1 2014 2014
dbSNP: rs200107989
rs200107989
COL4A3 ; MFF-DT
3 0.882 0.280 2 227294985 missense variant C/T snv 2.0E-04 3.6E-04 0.010 1.000 1 2012 2012
dbSNP: rs387906778
rs387906778
KCNJ5
5 0.827 0.200 11 128911745 missense variant A/G snv 0.700 1.000 1 2014 2014