Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
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
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs5030868
G6PD
0.827 0.160 X 154534419 missense variant G/A snv 2.6E-03 4.8E-04 9
rs1427407
BCL11A
0.827 0.120 2 60490908 intron variant T/C;G snv 6
rs708567
IL17RC
0.807 0.200 3 9918386 missense variant C/T snv 0.46 0.51 6
rs5471
TXNL4B ; HP
0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03 6
rs6934903 0.925 0.080 6 135130426 intergenic variant T/A snv 0.14 4
rs5470
TXNL4B ; HP
0.882 0.160 16 72054522 5 prime UTR variant C/G;T snv 3
rs1335354324
F2
0.925 0.120 11 46719722 missense variant G/A snv 2
rs6780995
IL17RD
0.925 0.080 3 57104391 missense variant G/A snv 0.62 0.64 2
rs763767332
BCL11A
1.000 0.080 2 60546297 missense variant T/A snv 8.0E-06 1
rs1206396500
GCH1
1.000 0.080 14 54902647 missense variant A/T snv 1
rs321198
PTN
1.000 0.080 7 137345092 non coding transcript exon variant T/C snv 0.57 1