Gene: KCNH2 ×
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: 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 2012 2012
dbSNP: rs189014161
rs189014161
KCNH2
3 0.882 0.120 7 150950336 stop gained G/A;C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs199472922
rs199472922
KCNH2
3 0.882 0.120 7 150951708 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2012 2012