Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs111033284
MYO7A
11 77156991 missense variant G/A snv 1.6E-05 7.0E-06 2
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins 2
rs1554777919
STXBP1
9 127669950 frameshift variant G/- delins 2
rs1554931219
BDNF ; BDNF-AS
11 27658063 stop gained C/A snv 2
rs1555625571
TUBB3
16 89934974 missense variant G/C snv 2
rs781469274
DNAH5
5 13792128 stop gained G/A snv 3.2E-05 7.0E-06 2
rs946006593
GATAD2B
1 153812108 stop gained G/A;C snv 2
rs977277400
MYBPC3
11 47336012 splice acceptor variant C/G snv 2
rs1553479216
SCN9A ; SCN1A-AS1
2 166228902 stop gained C/T snv 1
rs1553897738
PHOX2B
4 41745807 stop lost T/C snv 1
rs1555801973
MKKS
20 10412669 frameshift variant -/T delins 1
rs778431173
BBS10
12 76346181 missense variant C/A;G snv 4.0E-06 7.0E-06 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 4
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 9