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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 1.000 4 2018 2020
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.040 0.750 4 2013 2020
dbSNP: rs2234671
rs2234671
7 0.807 0.240 2 218164385 missense variant C/G snv 9.1E-02 0.11 0.020 0.500 2 2018 2019
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2019 2019
dbSNP: rs3138086
rs3138086
1 9 35647050 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs5030722
rs5030722
2 1.000 0.120 9 117714209 missense variant A/G snv 1.1E-04 2.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2018 2018
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2007 2007
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs751688663
rs751688663
7 0.807 0.280 3 11340656 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs771426493
rs771426493
2 1.000 0.120 14 55369861 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs776720135
rs776720135
2 1.000 0.120 2 227533680 missense variant A/G snv 4.0E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs777906302
rs777906302
3 0.925 0.160 7 22728782 synonymous variant A/G;T snv 4.0E-06 0.010 1.000 1 2019 2019