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
1 1.000 0.040 3 30620836 intron variant C/G snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs1057518075
rs1057518075
1 1.000 0.040 2 188995061 stop gained C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs10758278
rs10758278
1 1.000 0.040 9 34825306 intron variant G/A snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs10985349
rs10985349
1 1.000 0.040 9 121662964 intron variant C/T snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs13382862
rs13382862
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
1 1.000 0.040 12 57138966 intron variant G/C snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs1418184396
rs1418184396
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
1 1.000 0.040 17 1745208 missense variant C/G;T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs2306691
rs2306691
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: rs2652106
rs2652106
1 1.000 0.040 5 83498217 intron variant G/T snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs3781590
rs3781590
1 1.000 0.040 11 68391684 intron variant G/A snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs58749629
rs58749629
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
1 1.000 0.040 1 154519207 intron variant A/G;T snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs766407419
rs766407419
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
dbSNP: rs767169659
rs767169659
1 1.000 0.040 3 123733800 missense variant G/A snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs77294580
rs77294580
ACE
1 1.000 0.040 17 63480396 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs782591769
rs782591769
ELN
1 1.000 0.040 7 74045237 missense variant G/C snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs8125581
rs8125581
1 1.000 0.040 20 46010604 missense variant G/A snv 3.0E-04 3.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs3019885
rs3019885
2 0.925 0.120 8 117013406 intron variant T/A;G snv 0.710 1.000 2 2011 2015
dbSNP: rs137854485
rs137854485
2 0.925 0.160 15 48515402 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs201191171
rs201191171
2 0.925 0.080 20 46013279 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012