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: rs3764650
rs3764650
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.900 1.000 11 2011 2019
dbSNP: rs4147929
rs4147929
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.860 1.000 10 2013 2019
dbSNP: rs3752246
rs3752246
2 1.000 0.080 19 1056493 missense variant G/C;T snv 0.84; 4.1E-06 0.850 0.833 6 2011 2019
dbSNP: rs115550680
rs115550680
1 1.000 0.080 19 1050421 intron variant A/G snv 1.7E-02 0.830 0.667 3 2013 2019
dbSNP: rs111278892
rs111278892
1 1.000 0.080 19 1039324 upstream gene variant C/G;T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs3752231
rs3752231
1 1.000 0.080 19 1043639 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3752241
rs3752241
1 1.000 0.080 19 1053525 synonymous variant C/A;G;T snv 1.1E-05; 0.17; 6.9E-05 0.700 1.000 1 2019 2019
dbSNP: rs3795065
rs3795065
1 1.000 0.080 19 1039445 upstream gene variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs200538373
rs200538373
2 0.925 0.120 19 1061893 splice region variant G/A;C snv 2.5E-03 0.020 1.000 2 2017 2017
dbSNP: rs148078867
rs148078867
2 0.925 0.080 19 1044727 missense variant C/G snv 2.2E-04 2.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs3752232
rs3752232
1 1.000 0.080 19 1043749 missense variant A/G snv 5.5E-02 0.10 0.010 1.000 1 2014 2014
dbSNP: rs72973581
rs72973581
1 1.000 0.080 19 1043104 missense variant G/A snv 4.2E-02 4.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs78117248
rs78117248
1 1.000 0.080 19 1052854 intron variant A/G snv 1.5E-02 0.010 1.000 1 2015 2015