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: rs794728425
rs794728425
KCNH2
2 1.000 0.120 7 150958220 frameshift variant -/GGCGATGGGAGCTGGCCGGG delins 0.700 0
dbSNP: rs794728426
rs794728426
KCNH2
1 7 150958163 frameshift variant CGCG/GCTTTT delins 0.700 0
dbSNP: rs794728428
rs794728428
KCNH2
1 7 150958116 frameshift variant TCGGCCG/- delins 0.700 0
dbSNP: rs794728434
rs794728434
KCNH2
1 7 150952777 frameshift variant -/CAGG delins 0.700 0
dbSNP: rs794728456
rs794728456
KCNH2
1 7 150947794 frameshift variant G/- delins 0.700 0
dbSNP: rs794728457
rs794728457
KCNH2
1 7 150947782 frameshift variant TCTCCCC/- delins 0.700 0
dbSNP: rs794728464
rs794728464
KCNH2
1 7 150947512 splice region variant -/CTGC delins 0.700 0
dbSNP: rs794728465
rs794728465
KCNH2
1 7 150947400 frameshift variant -/G delins 0.700 0
dbSNP: rs794728467
rs794728467
KCNH2
1 7 150947380 frameshift variant -/CCGCC;CGCC delins 0.700 0
dbSNP: rs794728470
rs794728470
KCNH2
2 1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05 0.700 0
dbSNP: rs794728472
rs794728472
KCNH2
1 7 150947344 frameshift variant G/- delins 0.700 0
dbSNP: rs794728476
rs794728476
KCNH2
1 7 150974765 inframe insertion -/ATCTGCGCG delins 0.700 0
dbSNP: rs794728489
rs794728489
KCNH2
1 7 150959670 frameshift variant -/CCAC ins 0.700 0
dbSNP: rs794728497
rs794728497
KCNH2
1 7 150952840 frameshift variant C/- delins 0.700 0
dbSNP: rs794728499
rs794728499
KCNH2
1 7 150951578 frameshift variant G/- delins 0.700 0
dbSNP: rs794728500
rs794728500
KCNH2
1 7 150951013 frameshift variant G/- delins 0.700 0
dbSNP: rs794728506
rs794728506
KCNH2
1 7 150974918 frameshift variant C/- del 0.700 0
dbSNP: rs794728507
rs794728507
KCNH2
1 7 150974912 frameshift variant C/- delins 0.700 0
dbSNP: rs794728508
rs794728508
KCNH2
2 1.000 0.120 7 150974864 frameshift variant A/- del 0.700 0
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 0.020 1.000 2 2010 2017
dbSNP: rs199473024
rs199473024
KCNH2
2 7 150947362 missense variant T/C snv 7.0E-06 0.020 1.000 2 2014 2018
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2010 2017
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.020 1.000 2 2010 2017
dbSNP: rs104894021
rs104894021
KCNH2
5 0.851 0.120 7 150951629 missense variant G/C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs121912507
rs121912507
KCNH2
4 0.882 0.120 7 150951511 missense variant C/G;T snv 0.010 1.000 1 2008 2008