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: rs771137339
rs771137339
PLCD1
1 1.000 0.120 3 38008607 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs199472936
rs199472936
KCNH2
5 0.882 0.120 7 150951592 missense variant C/A;T snv 0.830 1.000 32 1995 2017
dbSNP: rs199472918
rs199472918
KCNH2
3 0.882 0.120 7 150951738 missense variant A/G snv 7.2E-05 5.6E-05 0.800 1.000 29 1995 2017
dbSNP: rs121912505
rs121912505
KCNH2
1 1.000 0.120 7 150952574 missense variant T/C snv 0.810 1.000 25 1995 2017
dbSNP: rs199472902
rs199472902
KCNH2
1 1.000 0.120 7 150952630 missense variant G/A snv 2.4E-05 1.4E-05 0.800 1.000 25 1995 2017
dbSNP: rs199472944
rs199472944
KCNH2
3 0.882 0.120 7 150951552 missense variant G/A snv 0.800 1.000 25 1995 2009
dbSNP: rs199473005
rs199473005
KCNH2
2 0.925 0.120 7 150948939 missense variant C/A;T snv 0.800 1.000 25 1995 2017
dbSNP: rs121912512
rs121912512
KCNH2
3 0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05 0.800 1.000 24 1995 2017
dbSNP: rs199472833
rs199472833
KCNH2
1 1.000 0.120 7 150974926 missense variant A/C;G;T snv 0.800 1.000 24 1995 2017
dbSNP: rs199472865
rs199472865
KCNH2
1 1.000 0.120 7 150959598 missense variant C/A;G snv 4.0E-06; 2.8E-05 0.700 1.000 24 1995 2017
dbSNP: rs199472866
rs199472866
KCNH2
1 1.000 0.120 7 150958484 missense variant C/T snv 4.9E-05 0.700 1.000 24 1995 2017
dbSNP: rs199472881
rs199472881
KCNH2
1 1.000 0.120 7 150958103 missense variant A/C;G snv 0.700 1.000 24 1995 2017
dbSNP: rs199472893
rs199472893
KCNH2
1 1.000 0.120 7 150952744 missense variant A/C;G snv 0.800 1.000 24 1995 2017
dbSNP: rs199472953
rs199472953
KCNH2
1 1.000 0.120 7 150951517 missense variant C/T snv 0.800 1.000 24 1995 2017
dbSNP: rs199472957
rs199472957
KCNH2
3 0.882 0.120 7 150951507 missense variant T/A;C;G snv 0.800 1.000 24 1995 2017
dbSNP: rs199472958
rs199472958
KCNH2
2 0.925 0.120 7 150951505 missense variant C/G;T snv 2.0E-05 0.800 1.000 24 1995 2017
dbSNP: rs199473004
rs199473004
KCNH2
2 0.925 0.120 7 150948938 missense variant T/C snv 0.800 1.000 24 1995 2017
dbSNP: rs199473006
rs199473006
KCNH2
1 1.000 0.120 7 150948912 missense variant G/A;C;T snv 0.700 1.000 24 1995 2017
dbSNP: rs199473035
rs199473035
KCNH2
1 1.000 0.120 7 150945388 missense variant G/A snv 4.8E-05 2.1E-05 0.700 1.000 24 1995 2017
dbSNP: rs199473428
rs199473428
KCNH2
4 0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06 0.800 1.000 24 1995 2012
dbSNP: rs199473435
rs199473435
KCNH2
1 1.000 0.120 7 150947854 missense variant G/A snv 7.2E-05 4.2E-05 0.700 1.000 24 1995 2017
dbSNP: rs199473668
rs199473668
KCNH2
1 1.000 0.120 7 150948455 missense variant C/A;G;T snv 4.1E-06; 9.0E-05 0.700 1.000 24 1995 2017
dbSNP: rs199472995
rs199472995
KCNH2
1 1.000 0.120 7 150950246 missense variant C/A snv 0.800 1.000 23 1995 2012
dbSNP: rs36210422
rs36210422
KCNH2
3 0.882 0.120 7 150958449 missense variant G/A;C snv 3.2E-04 0.800 1.000 23 1995 2012
dbSNP: rs121912507
rs121912507
KCNH2
4 0.882 0.120 7 150951511 missense variant C/G;T snv 0.820 1.000 22 1995 2019