Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064794793
rs1064794793
KCNH2
1.000 0.120 7 150950983 stop gained G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1085307620
rs1085307620
KCNH2
1.000 0.120 7 150958306 frameshift variant TGCCA/G delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs121434500
rs121434500
SNTA1
0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs121912508
rs121912508
KCNH2
0.925 0.120 7 150951649 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs121912997
rs121912997
DSP
0.925 0.160 6 7579989 stop gained C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs12720458
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1435990592
rs1435990592
KCNQ1
1.000 0.120 11 2445295 frameshift variant CGGCCGCGCCC/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1464992494
rs1464992494
KCNQ1 ; KCNQ1-AS1
1.000 0.120 11 2847874 frameshift variant -/G delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554424079
rs1554424079
KCNH2
1.000 0.120 7 150947381 frameshift variant -/GC delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554424083
rs1554424083
KCNH2
1.000 0.120 7 150947383 frameshift variant -/ACCCG delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554424138
rs1554424138
KCNH2
1.000 0.120 7 150947426 frameshift variant G/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554424671
rs1554424671
KCNH2
1.000 0.120 7 150948478 frameshift variant -/T delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554425149
rs1554425149
KCNH2
1.000 0.120 7 150950163 missense variant C/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554425226
rs1554425226
KCNH2
1.000 0.120 7 150950249 inframe deletion ATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGC/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554425284
rs1554425284
KCNH2
1.000 0.120 7 150950347 frameshift variant -/A delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554425320
rs1554425320
KCNH2
1.000 0.120 7 150950421 splice acceptor variant CTG/TT delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554425486
rs1554425486
KCNH2
1.000 0.120 7 150951004 stop gained G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554425527
rs1554425527
KCNH2
1.000 0.120 7 150951065 stop gained -/T delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554426219
rs1554426219
KCNH2
1.000 0.120 7 150952646 frameshift variant -/A delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554427943
rs1554427943
KCNH2
1.000 0.120 7 150958439 frameshift variant ACGACTCCCGGGCCGTCAGCGCCAG/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554428170
rs1554428170
KCNH2
1.000 0.120 7 150959574 frameshift variant G/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554428173
rs1554428173
KCNH2
1.000 0.120 7 150959583 stop gained C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554430908
rs1554430908
KCNH2
1.000 0.120 7 150974767 frameshift variant ATCTGCGCGGCAGCGCGGCGCTGCGTGCGCG/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554431441
rs1554431441
KCNH2
1.000 0.120 7 150977847 frameshift variant -/A delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554893228
rs1554893228
KCNQ1
1.000 0.120 11 2572899 stop gained C/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0