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: rs118203347
rs118203347
1 1.000 0.120 9 132927208 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs118203385
rs118203385
1 1.000 0.120 9 132923383 missense variant A/C;G snv 0.700 0
dbSNP: rs1323541164
rs1323541164
1 1.000 0.120 9 132921834 missense variant A/C snv 0.700 0
dbSNP: rs1014971
rs1014971
3 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 0.020 1.000 2 2010 2016
dbSNP: rs17674580
rs17674580
3 0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv 0.020 1.000 2 2014 2014
dbSNP: rs8102137
rs8102137
3 0.882 0.120 19 29805946 regulatory region variant T/C snv 0.24 0.020 1.000 2 2010 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: rs10775480
rs10775480
3 0.882 0.120 18 45737317 intron variant T/C snv 0.61 0.010 1.000 1 2013 2013
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: 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 0.010 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: 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: rs197414
rs197414
3 0.882 0.120 1 111766501 missense variant C/A;T snv 0.12; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2042329
rs2042329
3 0.882 0.120 5 64771925 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs2074647
rs2074647
3 0.882 0.120 14 72562470 missense variant G/A snv 9.0E-02 0.10 0.010 1.000 1 2004 2004
dbSNP: rs2228104
rs2228104
POR
3 0.882 0.120 7 75985635 synonymous variant T/A;C snv 4.5E-06; 0.92 0.010 1.000 1 2015 2015
dbSNP: rs2664139
rs2664139
3 0.882 0.120 15 39580382 upstream gene variant T/C snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs3213255
rs3213255
3 0.882 0.120 19 43573355 intron variant G/A snv 0.60 0.010 1.000 1 2015 2015