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: rs7652589
rs7652589
13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.020 1.000 2 2016 2019
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.020 1.000 2 2017 2018
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs10937921
rs10937921
2 1.000 0.120 4 3274764 downstream gene variant C/T snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs1138690
rs1138690
1 1.000 0.120 4 3289674 upstream gene variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12668183
rs12668183
1 1.000 0.120 7 16455781 regulatory region variant T/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs7658462
rs7658462
1 1.000 0.120 4 3281695 intergenic variant C/T snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs7895833
rs7895833
12 0.742 0.440 10 67863299 upstream gene variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1277892620
rs1277892620
2 0.925 0.120 17 37242036 synonymous variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs762847
rs762847
1 1.000 0.120 4 2910336 intron variant A/G snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs73786719
rs73786719
1 1.000 0.120 6 146716848 intron variant C/A snv 1.7E-02 3.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs2292779
rs2292779
4 0.851 0.320 8 140551294 intron variant G/C;T snv 0.57; 4.9E-06 0.010 1.000 1 2018 2018
dbSNP: rs4918
rs4918
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 < 0.001 1 2007 2007
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2010 2010
dbSNP: rs36117895
rs36117895
1 1.000 0.120 3 11358545 missense variant T/C snv 3.2E-02 3.9E-02 0.020 1.000 2 2010 2013
dbSNP: rs1382597320
rs1382597320
3 0.882 0.160 12 6934305 missense variant A/G snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2006 2006
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2006 2006
dbSNP: rs1170668763
rs1170668763
1 1.000 0.120 17 42818395 missense variant T/A snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs756573441
rs756573441
1 1.000 0.120 7 134933359 missense variant A/G;T snv 4.2E-06 0.010 1.000 1 2005 2005
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 1.000 2 2018 2019
dbSNP: rs557874766
rs557874766
2 0.925 0.160 5 80654926 missense variant C/G;T snv 8.5E-06; 6.8E-05; 8.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs1057035
rs1057035
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs3742330
rs3742330
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2016 2016