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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 < 0.001 1 2019 2019
dbSNP: rs40239
rs40239
MET
4 0.851 0.120 7 116677823 intron variant G/A snv 0.87 0.010 < 0.001 1 2019 2019
dbSNP: rs56391007
rs56391007
MET
16 0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs80350973
rs80350973
2 0.925 0.080 2 52252219 intron variant A/T snv 2.1E-05 0.010 < 0.001 1 2017 2017
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2015 2018
dbSNP: rs2363956
rs2363956
8 0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 0.020 1.000 2 2010 2019
dbSNP: rs4987188
rs4987188
11 0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 0.020 1.000 2 2015 2020
dbSNP: rs8170
rs8170
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.020 1.000 2 2011 2012
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2015 2016
dbSNP: rs10274701
rs10274701
2 0.925 0.080 7 148855364 intron variant C/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs1042821
rs1042821
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.010 1.000 1 2014 2014
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2014 2014
dbSNP: rs1054135
rs1054135
5 0.851 0.240 8 81478525 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2015 2015
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2015 2015
dbSNP: rs1064793184
rs1064793184
4 0.851 0.080 2 47791055 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1064793309
rs1064793309
2 0.925 0.080 17 43063889 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1114167795
rs1114167795
4 0.851 0.080 2 47799482 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2018 2018
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2018 2018
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913016
rs121913016
5 0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs1219648
rs1219648
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1235679626
rs1235679626
3 0.925 0.080 22 30940834 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs12662670
rs12662670
4 0.851 0.080 6 151597721 intron variant T/C;G snv 0.010 1.000 1 2011 2011