Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554121671 1.000 6 33440746 frameshift variant -/AGGA delins 4
rs1554776954 1.000 9 127661133 frameshift variant A/- delins 5
rs1555103652 0.882 0.240 12 13569973 missense variant A/C snv 11
rs3813034 0.827 0.160 17 30197786 3 prime UTR variant A/C snv 0.40 8
rs74315457 0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 6
rs2074898 1.000 0.040 19 1391362 intron variant A/C;G snv 3
rs28936379 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 10
rs4916723 0.925 0.040 5 88558577 intron variant A/C;G;T snv 4
rs2049161 18 4127583 intron variant A/C;T snv 0.22 2
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs9340799 0.583 0.680 6 151842246 intron variant A/G snv 0.32 62
rs9296158 0.763 0.080 6 35599305 intron variant A/G snv 0.65 16
rs736707 0.851 0.040 7 103489956 intron variant A/G snv 0.30 6
rs1553510492 2 161419040 missense variant A/G snv 4
rs279826 1.000 0.080 4 46332192 intron variant A/G snv 0.46 4
rs121964849 1.000 0.120 12 6869741 missense variant A/G snv 2
rs200754713 1 226888954 missense variant A/G snv 4.0E-06; 4.0E-06 2
rs1466835565
HK1
10 69368539 missense variant A/G snv 1
rs754747375
HK1
10 69369252 missense variant A/G snv 8.0E-06 7.0E-06 1
rs53576 0.641 0.320 3 8762685 intron variant A/G;T snv 42
rs2710102 0.790 0.120 7 147877298 intron variant A/G;T snv 12
rs2400707 1.000 0.040 5 148825489 5 prime UTR variant A/G;T snv 3
rs3915512 1.000 0.040 3 197295369 intron variant A/G;T snv 3
rs279827 4 46332685 splice region variant A/G;T snv 0.44 0.41 2