Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397514481
PLCB4
0.882 0.040 20 9409080 missense variant G/A;T snv 5
rs587776934
PIK3R2
0.851 0.320 19 18162974 missense variant G/A snv 5
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs864309503
MORC2
0.882 0.200 22 30941503 missense variant G/A snv 5
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs869312953
JAK1
0.851 0.120 1 64846735 missense variant G/T snv 5
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv 5
rs1057517825
DERL3 ; SMARCB1
0.925 22 23834143 missense variant G/A snv 4
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs1064793083
CHD7
0.882 0.080 8 60828682 missense variant C/T snv 4
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs121909283
NODAL
0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04 4
rs121912880
COL2A1
0.882 0.080 12 47986353 missense variant C/A;T snv 4
rs121918374
PYCR1
0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05 4
rs122445110
ATRX
0.882 0.200 X 77589902 missense variant A/G snv 4
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs137853063
VRK1
0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 4
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv 4
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4