Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs1554781700
COL5A1
0.851 0.240 9 134701287 missense variant G/T snv 12
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs201439531
CHAT
0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 11
rs121434341
CHD7
0.807 0.360 8 60855993 missense variant C/A;T snv 10
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs397515415
HDAC8
0.807 0.240 X 72495216 stop gained G/A;T snv 10
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins 9
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del 7
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv 6
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 8
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44