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: rs1554919471
rs1554919471
KCNQ1
0.925 0.200 11 2768861 frameshift variant G/- delins
CUI: C0039070
Disease: Syncope
Syncope 		0.700 1.000 1 2018 2018
dbSNP: rs1554920808
rs1554920808
KCNQ1
1.000 0.120 11 2776991 missense variant A/G snv
CUI: C0039070
Disease: Syncope
Syncope 		0.700 1.000 1 2018 2018
dbSNP: rs1057518916
rs1057518916
SCN5A
3 38606034 stop gained G/A snv
CUI: C0039070
Disease: Syncope
Syncope 		0.700 0
dbSNP: rs1178187217
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0039070
Disease: Syncope
Syncope 		0.700 0
dbSNP: rs1247665387
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06
CUI: C0039070
Disease: Syncope
Syncope 		0.700 0
dbSNP: rs1554430943
rs1554430943
KCNH2
0.925 0.160 7 150974821 missense variant C/T snv
CUI: C0039070
Disease: Syncope
Syncope 		0.700 0
dbSNP: rs199473442
rs199473442
KCNQ1
1.000 0.120 11 2445103 missense variant C/G;T snv
CUI: C0039070
Disease: Syncope
Syncope 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0039070
Disease: Syncope
Syncope 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C0039070
Disease: Syncope
Syncope 		0.700 0
dbSNP: rs766265889
rs766265889
TTN ; TTN-AS1
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0039070
Disease: Syncope
Syncope 		0.700 0
dbSNP: rs868064163
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06
CUI: C0039070
Disease: Syncope
Syncope 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C0039070
Disease: Syncope
Syncope 		0.700 0