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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2004 2012
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.030 0.667 3 2011 2019
dbSNP: rs1967309
rs1967309
3 0.925 0.080 16 4015582 non coding transcript exon variant A/G snv 0.51 0.710 1.000 2 2015 2017
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2005 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2009 2015
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.020 1.000 2 2013 2014
dbSNP: rs10811656
rs10811656
7 0.807 0.200 9 22124473 intron variant C/T snv 0.47 0.020 1.000 2 2013 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2013 2017
dbSNP: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.020 1.000 2 2013 2014
dbSNP: rs3732378
rs3732378
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.020 1.000 2 2005 2018
dbSNP: rs4977574
rs4977574
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.020 1.000 2 2013 2014
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2011 2018
dbSNP: rs6922269
rs6922269
7 0.807 0.200 6 150931849 intron variant G/A snv 0.35 0.020 1.000 2 2014 2015
dbSNP: rs8259
rs8259
BSG
9 0.776 0.200 19 582927 3 prime UTR variant T/A snv 0.39 0.020 1.000 2 2015 2017
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs11057830
rs11057830
5 0.851 0.040 12 124822507 intron variant G/A snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs113681054
rs113681054
1 1.000 0.040 12 21250045 intergenic variant T/C snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs11638352
rs11638352
2 0.925 0.040 15 44000939 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs117038461
rs117038461
1 1.000 0.040 7 100243731 intron variant C/T snv 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs117714106
rs117714106
3 0.882 0.080 14 84338144 intergenic variant C/T snv 9.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs11915606
rs11915606
BTD
2 0.925 0.040 3 15633655 intron variant T/G snv 3.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs12290663
rs12290663
2 0.925 0.040 11 26141193 intergenic variant G/A snv 5.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs12740374
rs12740374
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs138741635
rs138741635
2 0.925 0.040 3 60942161 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs140104968
rs140104968
1 1.000 0.040 7 99946004 intron variant C/T snv 1.5E-02 0.700 1.000 1 2015 2015