Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869025337
BVES
0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 5
rs1860561
ATP2A2
0.851 0.080 12 110345436 intron variant G/A snv 0.19 5
rs2200733 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 12
rs755373114
ANK2
0.925 0.080 4 113341742 missense variant A/C snv 7.2E-05 3
rs72544141
ANK2
0.925 0.120 4 113348277 missense variant A/G snv 5.5E-04 8.3E-04 4
rs1204372364
ANK2
1.000 0.120 4 113355900 missense variant T/C snv 8.0E-06 7.0E-06 2
rs35530544
ANK2
1.000 0.080 4 113367751 missense variant C/A snv 2.5E-03 1.0E-02 2
rs372827955
TBX5
1.000 0.080 12 114356026 missense variant G/A snv 4.4E-05 2.8E-05 2
rs3825214
TBX5
0.851 0.080 12 114357638 intron variant G/A snv 0.77 8
rs1355262401
GJA1
1.000 0.080 6 121447691 missense variant T/G snv 7.0E-06 2
rs397515458
TRDN ; TRDN-AS1
0.925 0.080 6 123503899 stop gained G/A snv 3.1E-05 5.6E-05 3
rs879253730
SCN3B
11 123642468 missense variant G/C snv 2
rs794728472
KCNH2
7 150947344 frameshift variant G/- delins 1
rs199473024
KCNH2
7 150947362 missense variant T/C snv 7.0E-06 2
rs794728470
KCNH2
1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05 2
rs794728467
KCNH2
7 150947380 frameshift variant -/CCGCC;CGCC delins 1
rs794728465
KCNH2
7 150947400 frameshift variant -/G delins 1
rs794728464
KCNH2
7 150947512 splice region variant -/CTGC delins 1
rs794728457
KCNH2
7 150947782 frameshift variant TCTCCCC/- delins 1
rs794728456
KCNH2
7 150947794 frameshift variant G/- delins 1
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 18
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs757549384
KCNH2
7 150948478 synonymous variant C/T snv 4.0E-06 1
rs773724817
KCNH2
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 4