Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv 23
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 23
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
0.701 0.360 20 63678486 intron variant A/C;G snv 21
rs1273593548
PIK3CG
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv 18
rs1057519904
H3C11
0.742 0.080 6 27872233 missense variant T/A snv 17
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv 16
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs1553260624
H3-3A
0.763 0.080 1 226064454 missense variant G/A snv 14
rs2235544
DIO1
0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 14
rs4644
LGALS3
0.732 0.320 14 55138217 missense variant C/A;G snv 0.35 14
rs74315452
SOD1
0.732 0.160 21 31667356 missense variant T/C snv 12
rs498872
PHLDB1
0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 10
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 10
rs2243248
IL4
0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv 9
rs2293157
STAT5A
0.763 0.120 17 42300657 intron variant C/A;T snv 9
rs587782144
TP53
0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 8
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins 7
rs12885300
DIO2 ; DIO2-AS1
0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 7
rs149840192
EGFR
0.807 0.080 7 55154129 missense variant C/A;T snv 7
rs750893877
TP53
0.807 0.320 17 7674258 synonymous variant G/A snv 8.0E-06 7
rs753152604
CDK4
0.827 0.040 12 57751680 missense variant C/A snv 7
rs11515
CDKN2A ; CDKN2A-DT
0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 6
rs1373481065
GADD45A
0.827 0.040 1 67687668 missense variant A/G snv 4.0E-06 6