Gene: KCNE1 ×
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: 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: 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: 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