Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61752992
MECP2
0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 9
rs1555244216
MED13L
1.000 12 115987290 splice acceptor variant T/C snv 2
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 4
rs1556836399
MIR6895 ; KDM5C
1.000 X 53195978 stop gained G/A snv 2
rs1555801973
MKKS
20 10412669 frameshift variant -/T delins 1
rs977277400
MYBPC3
11 47336012 splice acceptor variant C/G snv 2
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
rs786205208
NEXMIF
0.925 X 74742675 stop gained G/A snv 4
rs1556039406
NHS
1.000 X 17727350 frameshift variant C/- delins 2
rs34927195
NLGN3
1.000 X 71147958 frameshift variant -/G delins 2
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs797045865
PAFAH1B1
0.925 0.080 17 2674088 frameshift variant GA/- delins 3
rs5030857
PAH
0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04 2
rs62508588
PAH
1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05 2
rs1553897738
PHOX2B
4 41745807 stop lost T/C snv 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 9
rs761532715
PKDCC
1.000 2 42053250 stop gained C/A snv 3
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv 3
rs781768965
PTCH1
1.000 9 95508175 stop gained C/A;G snv 4.0E-06 3
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv 8