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: rs1071630
rs1071630
4 0.851 0.120 6 32641349 missense variant T/A;C snv 0.49 0.020 1.000 2 2015 2018
dbSNP: rs1129740
rs1129740
3 0.882 0.080 6 32641328 missense variant G/A snv 0.49 0.26 0.020 1.000 2 2015 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs1063348
rs1063348
2 1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2007 2007
dbSNP: rs1136759
rs1136759
3 0.882 0.080 6 32584354 missense variant C/A;G;T snv 8.9E-03; 0.23; 1.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs1140343
rs1140343
1 1.000 0.080 6 32661360 missense variant T/C;G snv 0.20 0.50 0.010 1.000 1 2015 2015
dbSNP: rs17878703
rs17878703
3 0.882 0.080 6 32584360 missense variant G/A;C;T snv 2.6E-02; 5.7E-04; 0.18; 1.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs33388
rs33388
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2008 2008
dbSNP: rs33389
rs33389
4 0.882 0.280 5 143320934 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs61747728
rs61747728
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2014 2014