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: rs397514449
rs397514449
SCN5A
0.925 0.120 3 38550984 protein altering variant -/CAT delins
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 0
dbSNP: rs45546039
rs45546039
SCN5A
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 0 1995 2015
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: rs765669597
rs765669597
SCN5A
0.851 0.120 3 38614063 stop gained A/C;T snv 4.7E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 0
dbSNP: rs794728849
rs794728849
SCN5A
0.925 0.120 3 38613782 stop gained G/A;C snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 0