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: rs12836771
rs12836771
4 0.882 0.080 X 114650913 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs3761554
rs3761554
2 1.000 0.040 X 123183391 upstream gene variant T/C snv 0.21 0.010 < 0.001 1 2018 2018
dbSNP: rs502434
rs502434
2 1.000 0.040 X 123403426 synonymous variant T/C snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs5905512
rs5905512
2 1.000 0.040 X 43867148 intron variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs6627057
rs6627057
2 X 145059799 downstream gene variant T/G snv 0.16 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: rs1555939456
rs1555939456
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.960 25 1997 2019
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 < 0.001 1 2008 2008
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: rs2076369
rs2076369
3 0.925 0.040 22 38067645 non coding transcript exon variant T/A;G snv 0.010 1.000 1 2007 2007
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: rs701428
rs701428
4 1.000 0.040 22 20241019 downstream gene variant A/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs713729
rs713729
2 1.000 0.040 22 38059462 intron variant T/A snv 0.20 0.010 1.000 1 2007 2007
dbSNP: rs737864
rs737864
2 1.000 0.040 22 19942636 intron variant C/T snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs737865
rs737865
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs1555910162
rs1555910162
5 0.925 0.080 22 50721469 frameshift variant -/C delins 0.700 0
dbSNP: rs1799990
rs1799990
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2007 2007
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: rs4813376
rs4813376
2 20 19870811 intron variant T/G snv 0.86 0.700 1.000 1 2010 2010
dbSNP: rs6024905
rs6024905
BPI
2 20 38329435 intron variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs6046396
rs6046396
2 20 19871859 non coding transcript exon variant G/A snv 0.68 0.800 1.000 1 2010 2010
dbSNP: rs6081541
rs6081541
2 1.000 0.040 20 19232246 intron variant A/G snv 0.20 0.700 1.000 1 2013 2013