Source: UNIPROT

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: rs137854600
rs137854600
0.807 0.120 3 38551504 missense variant C/A;T snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.840 1.000 24 1995 2017
dbSNP: rs137854601
rs137854601
0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.820 1.000 20 1995 2018
dbSNP: rs137854614
rs137854614
0.882 0.120 3 38550988 missense variant T/C snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.810 1.000 24 1995 2017
dbSNP: rs199473283
rs199473283
1.000 0.120 3 38551495 missense variant C/A;G;T snv 4.0E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.810 1.000 24 1995 2017
dbSNP: rs199473311
rs199473311
0.882 0.120 3 38551070 missense variant T/C snv 7.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.810 1.000 24 1995 2017
dbSNP: rs199473603
rs199473603
0.882 0.120 3 38562467 missense variant G/A snv 1.8E-04 2.1E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.810 1.000 20 1995 2015
dbSNP: rs137854611
rs137854611
0.882 0.120 3 38597787 missense variant G/A;C;T snv 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 25 1998 2017
dbSNP: rs137854612
rs137854612
0.851 0.120 3 38560170 missense variant C/T snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 25 1998 2017
dbSNP: rs199473082
rs199473082
1.000 0.080 3 38609824 missense variant G/A;C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 25 1998 2017
dbSNP: rs199473620
rs199473620
1.000 0.080 3 38554372 stop gained C/A;T snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 25 1998 2017
dbSNP: rs28937318
rs28937318
0.925 0.080 3 38606709 missense variant C/A;T snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 25 1998 2017
dbSNP: rs137854602
rs137854602
0.925 0.080 3 38555664 missense variant G/A snv 5.6E-05 1.4E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 24 1998 2017
dbSNP: rs137854605
rs137854605
1.000 0.120 3 38581337 missense variant GA/TT mnv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.800 1.000 24 1995 2017
dbSNP: rs137854609
rs137854609
0.882 0.120 3 38581170 missense variant C/A;T snv 7.9E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.800 1.000 24 1995 2017
dbSNP: rs199473083
rs199473083
0.925 0.080 3 38609823 missense variant C/T snv 1.6E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 24 1998 2017
dbSNP: rs199473171
rs199473171
1.000 0.080 3 38585801 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 24 1998 2017
dbSNP: rs199473310
rs199473310
1.000 0.120 3 38551076 missense variant T/A;C;G snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.800 1.000 24 1995 2017
dbSNP: rs199473565
rs199473565
0.882 0.120 3 38606743 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 24 1998 2017
dbSNP: rs137854603
rs137854603
1.000 0.080 3 38550602 missense variant C/T snv 6.0E-05 2.8E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 21 1998 2016
dbSNP: rs137854615
rs137854615
0.851 0.120 3 38550989 missense variant A/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 21 1998 2016
dbSNP: rs137854617
rs137854617
0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 21 1998 2016
dbSNP: rs199473097
rs199473097
0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 21 1998 2016
dbSNP: rs199473282
rs199473282
0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 21 1998 2016
dbSNP: rs137854601
rs137854601
0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 20 1998 2016
dbSNP: rs137854617
rs137854617
0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.800 1.000 20 1995 2015