Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7849782 0.925 0.160 9 101664982 intron variant C/A;G;T snv 3
rs104895358
MVK
12 109595148 missense variant G/A snv 1.2E-05 2
rs28934897
MVK
0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 10
rs3811047 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 10
rs2285932 0.851 0.120 12 112949145 synonymous variant T/C snv 0.76 0.78 5
rs2072136 0.851 0.120 12 112961114 synonymous variant G/A;C snv 0.31; 4.0E-06 6
rs1732778 0.882 0.080 12 113019120 upstream gene variant G/A snv 0.22 5
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1057518886 11 119090043 frameshift variant C/- delins 5
rs1554785242 0.882 0.160 9 133426240 missense variant G/T snv 8
rs11575933 0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03 3
rs1554791280 0.882 0.160 9 133442718 missense variant T/C snv 8
rs3804100 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 36
rs876538 1 159705927 upstream gene variant T/A;C snv 2
rs2808635 1 159724419 intergenic variant G/C;T snv 1
rs121917748 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 4
rs121918622 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 9
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs12477677 1.000 0.080 2 207666398 intron variant T/C snv 0.22 2
rs1055229 1.000 0.040 2 207666959 non coding transcript exon variant C/T snv 0.26 2
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs864309530 1 235806165 missense variant G/T snv 3
rs1057518827 1.000 0.040 1 247425248 missense variant A/G snv 3
rs1204135596 1 247425398 missense variant A/G snv 4.0E-06 1
rs35829419 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 23