Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs587777710
GATA6
0.807 0.160 18 22171856 stop gained G/T snv 6
rs77010898
CFTR
0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 4
rs1567744830
HYDIN
0.925 0.120 16 70874437 stop gained C/A snv 3
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 21
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv 9
rs869025222
RARB
0.827 0.240 3 25580574 missense variant T/C snv 9
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv 7
rs1565307564
TMEM258 ; MYRF
0.807 0.120 11 61783599 missense variant A/G snv 7
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 6
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 6
rs387906592
STAMBPL1 ; ACTA2
0.752 0.280 10 88941309 missense variant C/T snv 5
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1232197674
TFAP2B
0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 1
rs2234584
WT1
0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05 1
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 1