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: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2009 2009
dbSNP: rs6590474
rs6590474
1 1.000 0.040 11 99982441 intron variant A/C snv 0.71 0.010 1.000 1 2009 2009
dbSNP: rs7532266
rs7532266
1 1.000 0.040 1 23225130 regulatory region variant A/C snv 0.66 0.010 1.000 1 2011 2011
dbSNP: rs11174202
rs11174202
2 0.925 0.040 12 61858476 intron variant A/G snv 0.49 0.700 1.000 2 2017 2018
dbSNP: rs200960801
rs200960801
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs778902328
rs778902328
1 1.000 0.040 7 24291679 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs929626
rs929626
2 0.925 0.120 5 158883623 intron variant A/G snv 0.40 0.710 1.000 1 2017 2017
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2018 2019
dbSNP: rs13338499
rs13338499
2 0.925 0.040 16 67486220 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs33388
rs33388
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs56156506
rs56156506
1 1.000 0.040 X 38140399 intron variant A/T snv 0.33 0.800 1.000 1 2013 2013
dbSNP: rs6589488
rs6589488
1 1.000 0.040 11 115226236 intron variant A/T snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs1356639869
rs1356639869
2 1.000 0.040 7 24289527 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs3749073
rs3749073
1 1.000 0.040 2 230910379 missense variant C/A snv 0.12 0.17 0.010 1.000 1 2011 2011
dbSNP: rs12504244
rs12504244
2 0.925 0.040 4 54619021 intergenic variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1473473
rs1473473
4 0.925 0.080 12 72010598 intron variant C/A;T snv 0.81 0.020 1.000 2 2011 2013
dbSNP: rs2287348
rs2287348
1 1.000 0.040 2 53812676 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs75063949
rs75063949
2 0.925 0.040 6 25590813 intron variant C/G snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs9839776
rs9839776
4 0.851 0.160 3 181593779 intron variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.080 0.875 8 2004 2016
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.080 0.875 8 2004 2016
dbSNP: rs5030980
rs5030980
4 0.925 0.120 16 67483042 missense variant C/T snv 3.2E-02 2.9E-02 0.020 1.000 2 2005 2007