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: rs35337543
rs35337543
1 2 162279995 splice donor variant C/G;T snv 6.8E-03; 8.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs1799822
rs1799822
4 0.925 0.080 1 53213557 missense variant A/G snv 0.16 0.15 0.010 1.000 1 2019 2019
dbSNP: rs35732034
rs35732034
2 1.000 0.120 2 162268086 splice donor variant C/T snv 6.6E-03 5.1E-03 0.010 < 0.001 1 2011 2011
dbSNP: rs35744605
rs35744605
2 1.000 0.120 2 162277580 stop gained C/A;G;T snv 3.2E-03; 4.0E-06; 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs229541
rs229541
8 0.807 0.200 22 37195278 intron variant G/A snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs2407992
rs2407992
4 0.882 0.200 X 12920993 synonymous variant G/A;C snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs12150079
rs12150079
9 0.807 0.280 17 39869164 intron variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs35667974
rs35667974
9 0.776 0.280 2 162268127 missense variant T/C snv 1.1E-02 1.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs3747517
rs3747517
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2015 2015
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1990760
rs1990760
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.030 0.667 3 2011 2016
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013