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
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
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
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv 82
rs751377893
F5
0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 65
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs763351020 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 35
rs368087026 0.637 0.520 21 45530890 missense variant G/A snv 33
rs1801198 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 26
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs7096206 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 17
rs1206846668 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 16
rs1237063529
CBS
0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 13
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11
rs1169089134 0.790 0.320 11 49206785 missense variant C/G;T snv 9
rs1194897557 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 7
rs13306190 0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06 7
rs121964971
CBS
0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 5
rs769737896 0.851 0.080 19 11110759 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 8.0E-06 5
rs765625943 0.882 0.200 1 11803417 missense variant G/A snv 4.3E-06 4
rs773371778 0.925 0.080 16 56972000 missense variant C/T snv 4.0E-06 2
rs1300260120 1.000 0.080 7 22193435 missense variant G/A snv 1
rs749213026 1.000 0.080 10 99235705 missense variant A/G snv 4.0E-06 1