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: rs6627057
rs6627057
2 X 145059799 downstream gene variant T/G snv 0.16 0.800 1.000 1 2010 2010
dbSNP: rs6913660
rs6913660
2 1.000 0.040 6 27123646 upstream gene variant C/A snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs6932590
rs6932590
2 1.000 0.040 6 27281152 downstream gene variant T/C snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs7727102
rs7727102
2 5 4720472 intron variant G/C snv 0.32 0.800 1.000 1 2010 2010
dbSNP: rs7759855
rs7759855
3 0.925 0.040 6 28315086 downstream gene variant A/G snv 2.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs778293
rs778293
7 0.807 0.120 13 105516850 intergenic variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs7912580
rs7912580
2 1.000 0.040 10 62156213 regulatory region variant G/A snv 7.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs951436
rs951436
3 0.925 0.040 1 163063552 regulatory region variant A/C snv 0.42 0.010 1.000 1 2007 2007
dbSNP: rs9834970
rs9834970
9 0.790 0.080 3 36814539 downstream gene variant T/C snv 0.45 0.700 1.000 1 2014 2014
dbSNP: rs11740562
rs11740562
2 5 157515277 intron variant A/G snv 7.1E-02 0.800 1.000 1 2010 2010
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2015 2015
dbSNP: rs2494732
rs2494732
11 0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47 0.050 0.800 5 2011 2019
dbSNP: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2020 2020
dbSNP: rs3730358
rs3730358
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2020 2020
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs6484218
rs6484218
5 0.882 0.040 11 10369034 intron variant G/A snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs10994359
rs10994359
7 0.827 0.040 10 60462349 intron variant T/C snv 8.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2015 2015
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.900 20 2006 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.889 18 2006 2019
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs6024905
rs6024905
BPI
2 20 38329435 intron variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.730 1.000 4 2011 2017
dbSNP: rs2007044
rs2007044
6 0.882 0.040 12 2235794 intron variant A/G snv 0.50 0.010 1.000 1 2017 2017