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: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.900 0.923 52 2013 2020
dbSNP: rs143332484
rs143332484
1 1.000 0.080 6 41161469 missense variant C/A;T snv 7.6E-03 0.740 0.800 5 2015 2019
dbSNP: rs2234255
rs2234255
1 1.000 0.080 6 41159805 missense variant G/A snv 4.9E-03 1.8E-03 0.050 1.000 5 2016 2019
dbSNP: rs104894002
rs104894002
7 0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05 0.020 1.000 2 2015 2019
dbSNP: rs2234253
rs2234253
5 0.827 0.120 6 41161367 missense variant G/A;C;T snv 1.9E-04; 1.0E-02 0.020 1.000 2 2018 2019
dbSNP: rs121908402
rs121908402
3 0.882 0.280 6 41161277 missense variant A/C snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs142232675
rs142232675
1 1.000 0.080 6 41161395 missense variant C/T snv 9.7E-04 1.5E-03 0.010 1.000 1 2019 2019
dbSNP: rs149622783
rs149622783
1 1.000 0.080 6 41159867 missense variant C/G;T snv 4.0E-06; 1.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs150277350
rs150277350
1 1.000 0.080 6 41158975 missense variant C/T snv 1.4E-04 9.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs201280312
rs201280312
1 1.000 0.080 6 41161265 missense variant G/A snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2234256
rs2234256
3 0.882 0.120 6 41158917 missense variant A/G snv 1.8E-02 4.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs753325601
rs753325601
4 0.851 0.200 6 41161515 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs766647311
rs766647311
3 0.882 0.080 6 41159841 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020