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: rs2066713
rs2066713
9 0.807 0.200 17 30224647 intron variant G/A snv 0.34 0.010 < 0.001 1 2020 2020
dbSNP: rs29230
rs29230
6 0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18 0.010 < 0.001 1 2006 2006
dbSNP: rs4251417
rs4251417
7 0.827 0.200 17 30224840 intron variant C/T snv 6.8E-02 0.010 < 0.001 1 2020 2020
dbSNP: rs780312650
rs780312650
1 1.000 0.080 11 1558231 missense variant G/A snv 8.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.030 0.333 3 1999 2003
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.040 0.500 4 2001 2013
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.020 0.500 2 2015 2020
dbSNP: rs6691840
rs6691840
5 0.827 0.120 1 36859876 missense variant A/C;G snv 0.27; 9.2E-05 0.020 0.500 2 2006 2013
dbSNP: rs9291283
rs9291283
2 0.925 0.080 4 46369816 intron variant G/A;T snv 0.020 0.500 2 2014 2015
dbSNP: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.030 0.667 3 2005 2011
dbSNP: rs13273672
rs13273672
2 0.925 0.080 8 11754872 intron variant T/C snv 0.34 0.030 0.667 3 2014 2016
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.030 0.667 3 1996 1998
dbSNP: rs279871
rs279871
5 0.882 0.080 4 46303716 intron variant T/C snv 0.38 0.040 0.750 4 2010 2017
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.080 0.875 8 2005 2018
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.100 0.893 28 1998 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.900 10 2005 2018
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.900 1.000 19 2004 2019
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.900 1.000 11 2005 2019
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.080 1.000 8 1998 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.070 1.000 7 2004 2015
dbSNP: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.050 1.000 5 2012 2016
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.050 1.000 5 2012 2018
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.040 1.000 4 2001 2008
dbSNP: rs1789891
rs1789891
4 1.000 0.080 4 99329262 intron variant C/A snv 0.13 0.820 1.000 4 2012 2019
dbSNP: rs2066702
rs2066702
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.720 1.000 4 2014 2019