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: rs74315445
rs74315445
KCNE1
0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.800 1.000 4 1997 2014
dbSNP: rs199473362
rs199473362
KCNE1
1.000 0.120 21 34449343 missense variant G/A;C;T snv 3.2E-05; 4.0E-06
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.800 1.000 0 1997 2014
dbSNP: rs28933384
rs28933384
KCNE1
1.000 0.080 21 34449615 missense variant G/A snv 4.0E-06
CUI: C2676723
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 		0.800 1.000 0 1997 2011
dbSNP: rs74315445
rs74315445
KCNE1
0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05
CUI: C2676723
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 		0.800 1.000 0 1997 2011
dbSNP: rs1805128
rs1805128
KCNE1
0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.750 1.000 6 2000 2018
dbSNP: rs74315445
rs74315445
KCNE1
0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		0.710 1.000 15 1997 2015
dbSNP: rs74315445
rs74315445
KCNE1
0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 11 1997 2014
dbSNP: rs74315445
rs74315445
KCNE1
0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.700 1.000 15 1997 2015
dbSNP: rs1555843953
rs1555843953
KCNE1
1.000 0.120 21 34449430 frameshift variant TGGA/- del
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 6 1997 2014
dbSNP: rs1131691762
rs1131691762
KCNE1
1.000 0.120 21 34449622 frameshift variant -/A delins 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 4 1997 2014
dbSNP: rs1244688796
rs1244688796
KCNE1
0.925 0.200 21 34449584 stop gained C/T snv 4.0E-06
CUI: C2676723
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 		0.700 0
dbSNP: rs1244688796
rs1244688796
KCNE1
0.925 0.200 21 34449584 stop gained C/T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1568836457
rs1568836457
KCNE1
1.000 0.120 21 34449455 inframe deletion CAGGGTGAAGAAGCC/- delins
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.700 0
dbSNP: rs1805128
rs1805128
KCNE1
0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03
CUI: C3150956
Disease: LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1805128
rs1805128
KCNE1
0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.700 0
dbSNP: rs281865421
rs281865421
KCNE1
1.000 0.080 21 34449458 missense variant CAGGGT/AGGGGG mnv
CUI: C2676723
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 		0.700 0
dbSNP: rs747321794
rs747321794
KCNE1
21 34449462 missense variant G/A snv 2.8E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs758346045
rs758346045
KCNE1
1.000 0.080 21 34449497 stop gained G/A;T snv 2.0E-05; 8.0E-06
CUI: C2676723
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 		0.700 0
dbSNP: rs758346045
rs758346045
KCNE1
1.000 0.080 21 34449497 stop gained G/A;T snv 2.0E-05; 8.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs758346045
rs758346045
KCNE1
1.000 0.080 21 34449497 stop gained G/A;T snv 2.0E-05; 8.0E-06
CUI: C0151878
Disease: Prolonged QT interval
Prolonged QT interval 		0.700 0
dbSNP: rs779124360
rs779124360
KCNE1
0.925 0.200 21 34449585 stop gained C/T snv 4.0E-06
CUI: C2676723
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 		0.700 0
dbSNP: rs779124360
rs779124360
KCNE1
0.925 0.200 21 34449585 stop gained C/T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0