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: rs798766
rs798766
6 0.851 0.120 4 1732512 intron variant T/C snv 0.76 0.770 0.889 9 2010 2017
dbSNP: rs11892031
rs11892031
5 0.882 0.120 2 233656637 intron variant A/C;T snv 0.730 0.750 4 2010 2015
dbSNP: rs1014971
rs1014971
3 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 0.720 1.000 3 2010 2016
dbSNP: rs17674580
rs17674580
3 0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv 0.730 1.000 3 2011 2014
dbSNP: rs8102137
rs8102137
3 0.882 0.120 19 29805946 regulatory region variant T/C snv 0.24 0.720 1.000 3 2010 2014
dbSNP: rs10775480
rs10775480
3 0.882 0.120 18 45737317 intron variant T/C snv 0.61 0.710 1.000 2 2013 2014
dbSNP: rs10234749
rs10234749
3 0.882 0.120 7 152690784 regulatory region variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs10743980
rs10743980
4 0.882 0.120 12 12259861 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11077654
rs11077654
3 0.882 0.120 17 73010373 intron variant A/C snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs11191438
rs11191438
3 0.882 0.120 10 102878107 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs11191439
rs11191439
6 0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs1135612
rs1135612
POR
3 0.882 0.120 7 75980359 synonymous variant A/G;T snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs11543198
rs11543198
3 0.882 0.120 15 74619987 missense variant G/A;T snv 0.11 0.710 1.000 1 2015 2015
dbSNP: rs11871756
rs11871756
3 0.882 0.120 17 72730105 intron variant C/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1189516787
rs1189516787
3 0.882 0.120 19 33301681 missense variant C/G snv 7.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs1203030830
rs1203030830
3 0.882 0.120 7 55155873 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913480
rs121913480
2 1.000 0.120 4 1806604 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs12216499
rs12216499
1 1.000 0.120 6 158947492 intergenic variant G/T snv 0.11 0.700 1.000 1 2014 2014
dbSNP: rs1258767
rs1258767
1 1.000 0.120 15 32834253 intron variant A/G snv 0.18 0.700 1.000 1 2014 2014
dbSNP: rs1336331763
rs1336331763
3 0.882 0.120 16 28606796 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs140241283
rs140241283
3 0.882 0.120 1 11796249 start lost A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1428779969
rs1428779969
PXN
3 0.882 0.120 12 120223776 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1484761909
rs1484761909
3 0.882 0.120 1 109688224 missense variant A/G snv 3.0E-05 3.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs150799650
rs150799650
2 0.925 0.120 2 38073618 non coding transcript exon variant G/T snv 7.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs17650301
rs17650301
3 0.925 0.120 17 64483156 intron variant A/C snv 0.23 0.010 1.000 1 2011 2011