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: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2019 2019
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs3196378
rs3196378
4 0.882 0.080 9 134843036 3 prime UTR variant C/A;G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs12527089
rs12527089
1 1.000 0.040 6 148466023 intron variant C/T snv 4.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2020 2020
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2020 2020
dbSNP: rs820218
rs820218
1 1.000 0.040 17 75691415 non coding transcript exon variant G/A snv 0.27 0.28 0.700 1.000 1 2016 2016
dbSNP: rs1590
rs1590
5 0.882 0.120 9 99153883 3 prime UTR variant T/C;G snv 0.010 1.000 1 2020 2020