Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386834055
VPS13B
0.925 0.320 8 99853469 frameshift variant -/A delins 9
rs869312877
CHD2
0.925 0.160 15 92997299 frameshift variant -/G delins 3
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv 6
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv 5
rs1085308051
PTEN
0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06 6
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs777843533
ZMIZ1
0.925 0.160 10 79307487 frameshift variant -/C delins 3
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs768126403
EDNRB
1.000 0.080 13 77918517 stop gained G/A;T snv 4
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs1565091862
KCNMA1-AS1 ; KCNMA1
0.925 0.160 10 76944829 missense variant T/C snv 4
rs1057518781
MCOLN1
0.925 0.120 19 7527961 splice donor variant G/A;C snv 7
rs1057518782
LOC105372261 ; MCOLN1
0.925 0.120 19 7526579 stop gained C/G;T snv 7
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13