Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs10520699
PRC1-AS1 ; PRC1
1.000 0.080 15 90979736 intron variant G/A snv 8.6E-02 1
rs11852999
PRC1 ; PRC1-AS1
1.000 0.080 15 90971530 intron variant C/T snv 0.10 1
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 2
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 1
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 1
rs2234767
FAS ; ACTA2
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 1
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 1
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 11
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv 2
rs759363072
BMPR1A
0.882 0.160 10 86917188 stop gained C/G;T snv 4.0E-06 4
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs1131691036
TP53
0.851 0.080 17 7675207 frameshift variant GCA/CC delins 1
rs121912654
TP53
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 3
rs587782144
TP53
0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 4
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs587782596
TP53
0.807 0.200 17 7675071 missense variant G/A;T snv 2
rs587780071
TP53
0.732 0.240 17 7674951 missense variant G/A snv 11
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs397516435
TP53
0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 3
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 10
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv 20