Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs746722465 1.000 0.080 3 10042563 missense variant G/A snv 8.0E-06 1.4E-05 1
rs35927125 0.925 0.080 2 10046292 missense variant A/G;T snv 9.3E-02 3
rs34336420 0.882 0.080 2 10047996 missense variant C/G;T snv 4.0E-06; 3.3E-03 3
rs121912645 0.882 0.080 2 10048376 missense variant G/T snv 1.3E-04 8.4E-05 3
rs2073162 1.000 0.080 X 100594020 synonymous variant G/A snv 0.40 0.39 2
rs2073163 0.925 0.120 X 100594054 intron variant T/C snv 0.41 0.39 2
rs1155974 0.925 0.120 X 100598284 intron variant C/T snv 0.34 2
rs507392
EPO
0.925 0.160 7 100722313 intron variant G/A;C snv 2
rs551238
EPO
0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62 2
rs7158663 0.827 0.240 14 100853087 non coding transcript exon variant A/G snv 0.42 9
rs6092 0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02 6
rs10895068 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 14
rs948516 1.000 0.080 11 101139202 intron variant A/G snv 0.23 1
rs1384565 1.000 0.080 15 101264707 intergenic variant T/C snv 3.8E-02 1
rs78900934 1.000 0.080 1 101272565 upstream gene variant C/A snv 0.32 1
rs6543087 1.000 0.080 2 101699471 intron variant A/G;T snv 1
rs11674694 1.000 0.080 2 101708862 intron variant C/T snv 0.27 1
rs78789647 1.000 0.080 19 10182225 intron variant C/A;T snv 3.6E-02 1
rs2236935 1.000 0.080 2 101827580 intron variant C/T snv 0.83 1
rs994411260 0.925 0.160 19 10194877 missense variant G/C snv 2
rs1400094618
MOK
0.882 0.240 14 102229508 missense variant A/G snv 3
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs782656324 0.925 0.120 7 102273394 missense variant C/G;T snv 8.1E-06 2
rs6214 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 25
rs6218 0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02 13