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: rs137852813
rs137852813
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 5 2007 2011
dbSNP: rs104894073
rs104894073
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.020 1.000 2 2011 2012
dbSNP: rs10465885
rs10465885
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1057516039
rs1057516039
5 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516047
rs1057516047
4 0.882 0.120 2 47073816 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs11067075
rs11067075
1 12 114361761 intron variant C/A snv 1.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs113331868
rs113331868
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11665469
rs11665469
1 18 79454468 intron variant C/T snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs12190287
rs12190287
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121918466
rs121918466
14 0.752 0.280 12 112450416 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1357911800
rs1357911800
1 20 51790094 missense variant T/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1555223259
rs1555223259
3 1.000 0.080 12 114355868 stop gained G/C snv 0.700 1.000 1 2018 2018
dbSNP: rs1555896779
rs1555896779
2 1.000 20 62473507 missense variant G/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1701
rs1701
1 17 81402198 non coding transcript exon variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs177415
rs177415
2 1.000 0.040 14 73211255 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1800844
rs1800844
2 1.000 0.040 14 73136992 5 prime UTR variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs181317402
rs181317402
3 0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs2164331
rs2164331
1 2 135910326 intron variant C/T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs2289263
rs2289263
3 0.925 0.120 15 67146869 intron variant T/G snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2013 2013
dbSNP: rs309143
rs309143
1 2 135956608 intron variant A/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs3762977
rs3762977
1 5 51383180 non coding transcript exon variant A/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs387906770
rs387906770
2 1.000 8 11708439 splice acceptor variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs387906775
rs387906775
3 0.925 0.080 5 173234909 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs4841587
rs4841587
3 1.000 0.080 8 11756666 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2015 2015