Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs56149945 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 49
rs397507520 0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs775144154 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs368087026 0.637 0.520 21 45530890 missense variant G/A snv 33
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 25
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs17855750 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 21
rs3824662 0.752 0.320 10 8062245 intron variant C/A;T snv 11
rs3731217 0.763 0.320 9 21984662 intron variant A/C;T snv 10
rs1057519753 0.763 0.120 1 64846664 missense variant C/A snv 9
rs1142345 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 9
rs1135401746 0.827 0.400 1 1806512 missense variant C/G snv 7
rs121913488 0.807 0.120 13 28018505 missense variant C/A;G;T snv 7
rs387906517 0.827 0.120 9 130862919 missense variant G/A snv 6
rs121913448 0.827 0.120 9 130862976 missense variant G/A snv 5