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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.854 123 1997 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.869 84 2003 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.872 78 2003 2019
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.900 0.873 63 2008 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.841 44 1999 2019
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.100 0.810 42 1996 2019
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.100 0.793 29 1996 2017
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.900 1.000 28 2010 2019
dbSNP: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.900 0.893 28 2011 2019
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.100 0.885 26 1994 2019
dbSNP: rs821616
rs821616
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.100 0.818 22 2005 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.684 19 2005 2020
dbSNP: rs12807809
rs12807809
4 0.882 0.160 11 124736389 upstream gene variant T/C snv 0.20 0.900 0.875 16 2009 2019
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.100 0.929 14 2005 2017
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.100 0.727 11 2004 2018
dbSNP: rs2514218
rs2514218
4 0.925 0.040 11 113522272 regulatory region variant C/T snv 0.26 0.740 1.000 11 2014 2019
dbSNP: rs12704290
rs12704290
3 1.000 0.040 7 86798310 intron variant G/A snv 8.9E-02 0.720 0.900 10 2014 2019
dbSNP: rs6994992
rs6994992
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.100 0.900 10 2008 2019
dbSNP: rs9960767
rs9960767
3 0.925 0.040 18 55487771 intron variant A/C;G snv 0.880 1.000 10 2009 2018
dbSNP: rs10503253
rs10503253
5 0.851 0.040 8 4323322 intron variant C/A snv 0.18 0.850 0.889 9 2011 2017
dbSNP: rs2391191
rs2391191
7 0.807 0.080 13 105467097 missense variant G/A snv 0.40 0.32 0.090 1.000 9 2004 2018
dbSNP: rs3924999
rs3924999
5 0.851 0.040 8 32595840 missense variant G/A snv 0.40 0.31 0.090 0.667 9 2003 2016
dbSNP: rs737865
rs737865
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.090 0.889 9 2004 2017
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.090 0.667 9 2000 2015
dbSNP: rs9607782
rs9607782
3 1.000 0.040 22 41191552 intron variant T/A snv 0.23 0.710 1.000 9 2014 2019