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: rs370694515
rs370694515
SCN5A
1.000 0.120 3 38550679 missense variant C/T snv 4.4E-05 2.8E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 1 2016 2016
dbSNP: rs757532106
rs757532106
SCN5A
0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 0
dbSNP: rs137854609
rs137854609
SCN5A
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 0 1995 2017
dbSNP: rs137854617
rs137854617
SCN5A
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 0 1995 2015
dbSNP: rs199473603
rs199473603
SCN5A
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 5 1995 2015