Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 6
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 6
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv 6
rs775883520
TMEM67
0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 6
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 5
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv 5
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 5
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs121434407
LOC101929270 ; GLE1
0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 5
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs397514481
PLCB4
0.882 0.040 20 9409080 missense variant G/A;T snv 5
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 5
rs137853229
RECQL4
0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05 5
rs201108965
TMEM216
0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04 5
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs122445110
ATRX
0.882 0.200 X 77589902 missense variant A/G snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1064793083
CHD7
0.882 0.080 8 60828682 missense variant C/T snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1554602465
CHD7
0.882 0.080 8 60845063 missense variant G/A snv 4