Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs991132188
FLT3
1.000 0.040 13 28018492 missense variant T/C snv 1
rs967461896
TP53
0.724 0.240 17 7675086 missense variant A/C;G;T snv 16
rs942158624
TP53
0.724 0.320 17 7674948 missense variant T/A snv 16
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 10
rs876660821
TP53
0.689 0.400 17 7675075 missense variant A/C;G;T snv 21
rs876658468
TP53
0.689 0.440 17 7674954 missense variant G/A;C;T snv 22
rs869312828
DDX41 ; DOK3
0.807 0.080 5 177512369 missense variant C/T snv 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 1
rs797046041
TERT
1.000 0.040 5 1282578 missense variant G/C snv 1
rs797045145
HFE ; LOC108783645
0.807 0.240 6 26091479 stop gained G/A snv 1
rs796065343
CSF3R
0.776 0.080 1 36467833 missense variant G/A snv 2
rs794727176
NSD1
0.882 0.080 5 177269630 stop gained C/T snv 3
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06 17
rs786201838
TP53
0.683 0.440 17 7674953 missense variant T/A;C;G snv 23
rs786201059
TP53
0.701 0.360 17 7673764 stop gained C/A;G;T snv 19
rs786201057
TP53
0.677 0.400 17 7675995 missense variant G/A;C;T snv 24
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs772061268
FLT3
1.000 0.040 13 28018487 missense variant T/G snv 1
rs771174392
DNMT3A
0.925 0.200 2 25235779 missense variant T/C snv 2
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 7
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 1
rs762890562
DDX41
0.925 0.040 5 177515944 stop gained -/CATC delins 8.7E-05 7.0E-05 2
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs759380437
DNMT3A
0.925 0.200 2 25247685 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 2