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: rs17075286
rs17075286
2 3 43189231 intergenic variant C/G snv 5.9E-02 0.800 1.000 1 2011 2011
dbSNP: rs2018368
rs2018368
2 11 10718819 intergenic variant C/G snv 0.59 0.800 1.000 1 2010 2010
dbSNP: rs3788533
rs3788533
3 0.925 0.040 22 38127239 non coding transcript exon variant C/G snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs12282742
rs12282742
2 11 18244252 intron variant C/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs7065696
rs7065696
2 X 53947621 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs989638
rs989638
3 0.925 0.040 X 123239256 intron variant C/G;T snv 0.010 < 0.001 1 2018 2018
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: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.030 1.000 3 2004 2008
dbSNP: rs12155594
rs12155594
2 1.000 0.040 8 31749079 intron variant C/T snv 7.8E-02 0.020 1.000 2 2013 2018
dbSNP: rs10275045
rs10275045
5 0.882 0.160 7 1881190 intron variant C/T snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2015 2015
dbSNP: rs10494561
rs10494561
3 1.000 0.040 1 183277955 intron variant C/T snv 9.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs10868235
rs10868235
6 0.925 0.040 9 84878840 intron variant C/T snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12105421
rs12105421
2 1.000 0.040 2 102959630 intron variant C/T snv 7.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs1249144069
rs1249144069
5 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs17746001
rs17746001
4 0.925 0.040 4 179734472 intergenic variant C/T snv 5.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs1992045
rs1992045
2 8 57928365 intron variant C/T snv 0.14 0.800 1.000 1 2010 2010
dbSNP: rs2155907
rs2155907
2 11 98223945 intergenic variant C/T snv 0.38 0.700 1.000 1 2010 2010
dbSNP: rs2424913
rs2424913
18 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 0.010 1.000 1 2017 2017
dbSNP: rs2514218
rs2514218
4 0.925 0.040 11 113522272 regulatory region variant C/T snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs2841307
rs2841307
2 6 100308811 intergenic variant C/T snv 0.20 0.800 1.000 1 2010 2010
dbSNP: rs3794899
rs3794899
2 1.000 0.040 18 50719733 intron variant C/T snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs3892158
rs3892158
2 1.000 0.040 18 50674143 intron variant C/T snv 0.69 0.010 1.000 1 2015 2015