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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 17 2004 2019
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.040 1.000 4 2012 2017
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.030 0.667 3 1999 2015
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.020 1.000 2 2011 2019
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 1.000 2 2014 2015
dbSNP: rs148789453
rs148789453
4 0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06 0.020 1.000 2 2014 2019
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2015 2018
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2015
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs10812227
rs10812227
2 1.000 0.080 9 2548556 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1106076
rs1106076
2 1.000 0.080 7 5581212 regulatory region variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1133503
rs1133503
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11789399
rs11789399
5 0.882 0.040 9 118597008 intergenic variant G/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs120074125
rs120074125
7 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121918805
rs121918805
4 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs12282742
rs12282742
2 11 18244252 intron variant C/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs144851946
rs144851946
1 1 156138701 missense variant G/A;T snv 1.4E-04; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs17693963
rs17693963
5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs1799920
rs1799920
2 5 63961656 missense variant C/G;T snv 3.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs1992044
rs1992044
2 8 57928349 intron variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2054399
rs2054399
4 0.925 0.040 3 178623794 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2074898
rs2074898
3 1.000 0.040 19 1391362 intron variant A/C;G snv 0.010 1.000 1 2013 2013