Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1104760
rs1104760
1 1.000 0.040 3 195790450 missense variant G/A;T snv 0.78; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs1800907
rs1800907
3 0.925 0.120 7 142800425 upstream gene variant T/C snv 0.56 0.010 < 0.001 1 2011 2011
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1801198
rs1801198
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2011 2011
dbSNP: rs2232366
rs2232366
1 1.000 0.040 X 49258209 intron variant C/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2232368
rs2232368
1 1.000 0.040 X 49255822 intron variant C/T snv 2.3E-02 1.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs2236225
rs2236225
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2011 2011
dbSNP: rs2246901
rs2246901
3 0.882 0.080 3 195762138 missense variant C/A;T snv 0.67 0.010 1.000 1 2011 2011
dbSNP: rs2258447
rs2258447
1 1.000 0.040 3 195752385 missense variant T/A;C snv 0.89 0.010 1.000 1 2011 2011
dbSNP: rs2280883
rs2280883
9 0.827 0.280 X 49252667 intron variant T/C snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs2289205
rs2289205
1 1.000 0.040 3 53844589 5 prime UTR variant C/T snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs2688513
rs2688513
1 1.000 0.040 3 195778793 missense variant G/A;C;T snv 0.79; 4.5E-06 0.010 1.000 1 2011 2011
dbSNP: rs2738113
rs2738113
1 1.000 0.040 8 6971563 upstream gene variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs2812378
rs2812378
8 0.790 0.200 9 34710263 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs3733890
rs3733890
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2011 2011
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs4244593
rs4244593
1 1.000 0.040 17 17516904 intron variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs4646406
rs4646406
1 1.000 0.040 17 17513855 intron variant T/A snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs625879
rs625879
2 0.925 0.080 5 79085866 intron variant A/C;T snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs660895
rs660895
10 0.752 0.360 6 32609603 intergenic variant A/G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs712012
rs712012
1 1.000 0.040 3 196237816 3 prime UTR variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs7356530
rs7356530
1 1.000 0.040 5 79105085 intron variant G/A snv 0.52 0.010 1.000 1 2011 2011