Source: ALL
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: rs2836411
rs2836411
ERG
1 1.000 0.040 21 38447907 intron variant C/A;T snv 0.720 1.000 3 2017 2020
dbSNP: rs1795061
rs1795061 		1 1.000 0.040 1 214235937 intergenic variant T/C;G snv 0.710 0.500 2 2017 2020
dbSNP: rs9316871
rs9316871 		1 1.000 0.040 13 22287782 intergenic variant A/G snv 0.22 0.710 0.500 2 2017 2020
dbSNP: rs1036095
rs1036095
TGFBR2
1 1.000 0.040 3 30620836 intron variant C/G snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs1057518075
rs1057518075
COL3A1 ; MIR3606
1 1.000 0.040 2 188995061 stop gained C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs10758278
rs10758278
PHF24
1 1.000 0.040 9 34825306 intron variant G/A snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs10985349
rs10985349
DAB2IP
1 1.000 0.040 9 121662964 intron variant C/T snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs12133641
rs12133641
IL6R
3 0.925 0.040 1 154455807 intron variant A/G snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs12695895
rs12695895
AGTR1
3 0.925 0.040 3 148725481 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs13382862
rs13382862
LDAH
1 1.000 0.040 2 20682689 upstream gene variant A/G;T snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs1385526
rs1385526
LRP1
1 1.000 0.040 12 57138966 intron variant G/C snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs1418184396
rs1418184396
SERPINF1
1 1.000 0.040 17 1776722 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs1419338705
rs1419338705
ELN
1 1.000 0.040 7 74048163 missense variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs2070863
rs2070863
SERPINF2
1 1.000 0.040 17 1745208 missense variant C/G;T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs2234681
rs2234681
MMP9
2 1.000 0.040 20 46008773 upstream gene variant ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC delins 0.010 1.000 1 2018 2018
dbSNP: rs2306691
rs2306691
LRP1 ; LRP1-AS
1 1.000 0.040 12 57145019 missense variant A/G snv 2.0E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs2479409
rs2479409
PCSK9
4 1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66 0.010 < 0.001 1 2018 2018
dbSNP: rs2652106
rs2652106
VCAN
1 1.000 0.040 5 83498217 intron variant G/T snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs3781590
rs3781590
LRP5
1 1.000 0.040 11 68391684 intron variant G/A snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs3827066
rs3827066
ZNF335
2 0.925 0.040 20 45957384 intron variant C/T snv 0.12 0.010 < 0.001 1 2020 2020
dbSNP: rs4916251
rs4916251
PIGC ; DNM3
3 0.882 0.040 1 172377256 intron variant T/A snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs58749629
rs58749629
PCIF1
1 1.000 0.040 20 45942678 intron variant G/A;T snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs6674171
rs6674171
TDRD10
1 1.000 0.040 1 154519207 intron variant A/G;T snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs7025486
rs7025486
DAB2IP
4 0.851 0.040 9 121660124 intron variant G/A snv 0.28 0.810 1.000 1 2010 2010
dbSNP: rs766407419
rs766407419
SERPINF2
1 1.000 0.040 17 1745008 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2014 2014