Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv 8
rs111033178
MYO7A
0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 6
rs111033284
MYO7A
11 77156991 missense variant G/A snv 1.6E-05 7.0E-06 2
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 5
rs121918608
AHCY
1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 3
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs1553245943
ATP1A2
1.000 0.080 1 160137001 missense variant G/A snv 2
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins 2
rs1553283037
HNRNPU
1.000 1 244860382 missense variant T/C snv 2
rs1553479216
SCN9A ; SCN1A-AS1
2 166228902 stop gained C/T snv 1
rs1553549717
SCN1A ; SCN1A-AS1
1.000 2 166051871 frameshift variant C/- delins 2
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1553794464
ZBTB20-AS1 ; ZBTB20
1.000 3 114350821 frameshift variant -/C delins 2
rs1553897738
PHOX2B
4 41745807 stop lost T/C snv 1
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv 3