Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518886 11 119090043 frameshift variant C/- delins 5
rs864309530 1 235806165 missense variant G/T snv 3
rs104895358
MVK
12 109595148 missense variant G/A snv 1.2E-05 2
rs3832879 12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 2
rs62641689 15 73323818 missense variant C/A;T snv 3.2E-03 2
rs7805622 7 56483270 non coding transcript exon variant A/G;T snv 2
rs876538 1 159705927 upstream gene variant T/A;C snv 2
rs1204135596 1 247425398 missense variant A/G snv 4.0E-06 1
rs1424748509 12 6330859 missense variant C/T snv 4.0E-06 1
rs2808635 1 159724419 intergenic variant G/C;T snv 1
rs41550816 6 31271178 missense variant C/T snv 1
rs755789256 4 55868434 missense variant G/A snv 2.8E-05 1.3E-04 1
rs766778566 16 3243532 missense variant C/T snv 8.0E-06 1.4E-05 1
rs781431904 14 73192663 missense variant A/G snv 1.2E-05 1
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs61752717 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs3804100 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 36
rs4149584 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 24
rs35829419 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 23
rs2069705 0.695 0.440 12 68161231 intron variant G/A;C snv 19