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: rs184442491
rs184442491
SCN5A
1.000 0.120 3 38603888 missense variant C/A snv 2.1E-04 7.7E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473043
rs199473043
SCN5A
1.000 0.120 3 38633282 missense variant C/A snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473045
rs199473045
SCN5A
0.925 0.120 3 38633228 missense variant C/A;T snv 8.0E-06; 2.5E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473047
rs199473047
SCN5A
1.000 0.120 3 38633180 missense variant C/G;T snv 4.8E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473048
rs199473048
SCN5A
1.000 0.120 3 38633166 missense variant C/T snv 5.3E-05 5.6E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473049
rs199473049
SCN5A
1.000 0.120 3 38633150 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473055
rs199473055
SCN5A
0.882 0.120 3 38630393 missense variant G/A;C snv 4.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473057
rs199473057
SCN5A
1.000 0.120 3 38630360 missense variant T/C snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473059
rs199473059
SCN5A
1.000 0.120 3 38630330 missense variant C/G;T snv 2.2E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473070
rs199473070
SCN5A
0.925 0.120 3 38613811 missense variant A/G;T snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473071
rs199473071
SCN5A
0.925 0.120 3 38613772 missense variant C/T snv 1.7E-05 1.4E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473072
rs199473072
SCN5A
0.827 0.160 3 38613773 missense variant G/A snv 1.2E-05 8.4E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 20 1995 2015
dbSNP: rs199473076
rs199473076
SCN5A
0.925 0.120 3 38609950 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473077
rs199473077
SCN5A
1.000 0.120 3 38609935 missense variant G/T snv 8.0E-06 7.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473078
rs199473078
SCN5A
1.000 0.120 3 38609929 missense variant C/G snv 5.6E-05 4.2E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473080
rs199473080
SCN5A
1.000 0.120 3 38609843 missense variant G/T snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473084
rs199473084
SCN5A
1.000 0.120 3 38609803 missense variant C/G;T snv 1.6E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473094
rs199473094
SCN5A
1.000 0.120 3 38606791 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473097
rs199473097
SCN5A
0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 20 1995 2015
dbSNP: rs199473099
rs199473099
SCN5A
1.000 0.120 3 38606700 missense variant G/A snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473105
rs199473105
SCN5A
1.000 0.120 3 38606099 missense variant A/G snv 7.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473107
rs199473107
SCN5A
1.000 0.120 3 38606078 missense variant A/T snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473108
rs199473108
SCN5A
0.925 0.120 3 38606071 missense variant G/A;C;T snv 1.2E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473109
rs199473109
SCN5A
1.000 0.120 3 38606064 missense variant G/C snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473110
rs199473110
SCN5A
1.000 0.120 3 38606052 missense variant C/A;T snv 1.6E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015