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: rs867410737
rs867410737
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs1009298200
rs1009298200
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1057519521
rs1057519521
8 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
dbSNP: rs1554210073
rs1554210073
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1555452127
rs1555452127
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs1555462347
rs1555462347
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs267606826
rs267606826
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs369160589
rs369160589
35 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2019 2020
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 0.500 2 2019 2020
dbSNP: rs1059047
rs1059047
1 1.000 0.120 10 79611881 missense variant T/C snv 7.8E-02 8.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs1965708
rs1965708
6 0.851 0.200 10 79557289 missense variant G/T snv 0.22 0.25 0.010 1.000 1 2010 2010
dbSNP: rs201847938
rs201847938
1 1.000 0.120 10 79559428 missense variant G/A snv 9.9E-04 3.4E-03 0.010 1.000 1 2010 2010
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: rs397728201
rs397728201
4 0.925 0.160 10 79614033 stop gained C/A;T snv 3.6E-05; 4.0E-06 0.010 1.000 1 2010 2010
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: 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: 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