Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17215500
rs17215500
0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.730 1.000 11 1999 2015
dbSNP: rs397508118
rs397508118
0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 1999 2015
dbSNP: rs397508112
rs397508112
0.882 0.120 11 2570638 frameshift variant T/- del
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2004 2009
dbSNP: rs397508120
rs397508120
0.882 0.120 11 2570734 frameshift variant G/- delins
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2002 2009
dbSNP: rs794728565
rs794728565
0.882 0.120 11 2527943 frameshift variant G/- delins
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2009 2009
dbSNP: rs786204778
rs786204778
0.925 0.120 11 2572891 frameshift variant T/- del 4.0E-06
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs199472815
rs199472815
0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 1.000 2 2014 2018
dbSNP: rs151344631
rs151344631
0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs199472702
rs199472702
0.882 0.120 11 2570754 missense variant G/A;C snv 8.1E-06
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs199472755
rs199472755
0.851 0.120 11 2583478 missense variant C/A;G;T snv 4.0E-06
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs199473662
rs199473662
0.925 0.120 11 2570718 missense variant C/A;T snv 4.0E-06
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018