Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518916
rs1057518916
SCN5A
1 3 38606034 stop gained G/A snv 0.700 0
dbSNP: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1247665387
rs1247665387
FA2H
14 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1554430943
rs1554430943
KCNH2
4 0.925 0.160 7 150974821 missense variant C/T snv 0.700 0
dbSNP: rs199473442
rs199473442
KCNQ1
3 1.000 0.120 11 2445103 missense variant C/G;T snv 0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs766265889
rs766265889
TTN ; TTN-AS1
11 0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs868064163
rs868064163
ACTL6A
13 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs1554919471
rs1554919471
KCNQ1
4 0.925 0.200 11 2768861 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1554920808
rs1554920808
KCNQ1
3 1.000 0.120 11 2776991 missense variant A/G snv 0.700 1.000 1 2018 2018