Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1555528356
ANKRD11
0.790 0.360 16 89282836 stop gained G/A snv 13
rs763028380
ABCC8
0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 12
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 12
rs1561881909
CUL7 ; KLC4
0.925 0.200 6 43044835 frameshift variant G/- delins 9
rs1057518944
NIPBL
0.807 0.280 5 36984990 frameshift variant CT/- delins 9
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins 9
rs139073416
PIGV
0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 9
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins 6