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: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121913286
rs121913286
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 0
dbSNP: rs1002076
rs1002076
2 0.925 0.120 1 10378834 3 prime UTR variant G/A snv 0.33 0.010 < 0.001 1 2015 2015
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2010 2010
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 < 0.001 1 2013 2013
dbSNP: rs1596797
rs1596797
2 0.925 0.120 19 8977341 missense variant T/A;C;G snv 2.0E-05; 4.0E-06; 0.74 0.010 < 0.001 1 2011 2011
dbSNP: rs4987208
rs4987208
4 0.851 0.160 12 913403 stop gained A/C snv 3.5E-02 2.1E-02 0.010 < 0.001 1 2005 2005
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 0.500 2 2003 2015
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2009 2016
dbSNP: rs8170
rs8170
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.720 1.000 3 2010 2016
dbSNP: rs11782652
rs11782652
4 0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 0.710 1.000 2 2013 2015
dbSNP: rs1243180
rs1243180
7 0.790 0.160 10 21626690 intron variant T/A snv 0.23 0.710 1.000 2 2013 2015
dbSNP: rs17329882
rs17329882
2 0.925 0.120 4 119028805 intron variant A/C;T snv 0.710 1.000 2 2015 2017
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2009 2013
dbSNP: rs633862
rs633862
5 0.925 0.120 9 133279871 upstream gene variant T/C snv 0.49 0.720 1.000 2 2014 2017
dbSNP: rs757210
rs757210
6 0.807 0.160 17 37736525 intron variant C/G;T snv 0.710 1.000 2 2013 2015
dbSNP: rs10017134
rs10017134
2 0.925 0.120 4 69591303 intron variant T/C snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs10088218
rs10088218
4 0.851 0.120 8 128531703 intron variant G/A snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs1017134
rs1017134
2 0.925 0.120 7 35307237 intergenic variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs10260419
rs10260419
3 0.882 0.120 7 11524758 intron variant C/G snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1057156
rs1057156
2 0.925 0.120 3 128081228 3 prime UTR variant A/G snv 0.22 0.23 0.010 1.000 1 2019 2019