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: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.040 1.000 4 2007 2016
dbSNP: rs9282541
rs9282541
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.040 1.000 4 2007 2017
dbSNP: rs1800976
rs1800976
2 1.000 0.080 9 104928428 intron variant C/G snv 0.47 0.020 1.000 2 2016 2016
dbSNP: rs2275542
rs2275542
1 1.000 0.080 9 104882799 intron variant C/T snv 0.28 0.020 1.000 2 2016 2016
dbSNP: rs2515602
rs2515602
1 1.000 0.080 9 104837887 intron variant A/G snv 0.47 0.020 1.000 2 2016 2016
dbSNP: rs4149313
rs4149313
9 0.763 0.240 9 104824472 missense variant T/C snv 0.020 1.000 2 2016 2016
dbSNP: rs2066714
rs2066714
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.010 1.000 1 2015 2015
dbSNP: rs3890182
rs3890182
5 0.925 0.120 9 104885374 intron variant G/A;T snv 0.010 1.000 1 2016 2016