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: 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: 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: rs199473652
rs199473652
KCNJ2
1 1.000 0.120 17 70175259 missense variant A/G snv 0.020 1.000 2 2006 2008
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: 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: rs797044841
rs797044841
KCNJ2
1 1.000 0.120 17 70175306 inframe deletion GCTTTCGTCCTG/- delins 0.700 1.000 1 2013 2013
dbSNP: rs797044842
rs797044842
KCNJ2
1 1.000 0.120 17 70176005 missense variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1060500053
rs1060500053
KCNJ2
1 1.000 0.120 17 70175721 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1555603974
rs1555603974
KCNJ2
1 1.000 0.120 17 70175754 stop gained G/T snv 0.700 0
dbSNP: rs199473369
rs199473369
KCNJ2
1 1.000 0.120 17 70175250 missense variant G/A;C snv 0.700 0
dbSNP: rs199473371
rs199473371
KCNJ2
1 1.000 0.120 17 70175272 missense variant A/G snv 0.700 0
dbSNP: rs199473380
rs199473380
KCNJ2
1 1.000 0.120 17 70175500 missense variant G/T snv 0.700 0
dbSNP: rs199473383
rs199473383
KCNJ2
1 1.000 0.120 17 70175683 missense variant G/A snv 0.700 0
dbSNP: rs864622292
rs864622292
KCNJ2
1 1.000 0.120 17 70175446 missense variant CCA/TTT mnv 0.700 0
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: rs199473387
rs199473387
KCNJ2
2 1.000 0.120 17 70175952 missense variant A/C;G snv 0.800 1.000 6 2001 2010
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: rs1567823248
rs1567823248
KCNJ2
2 0.925 0.120 17 70176140 frameshift variant C/- delins 0.700 1.000 1 2011 2011