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: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.050 1.000 5 2012 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.050 1.000 5 2010 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2013 2019
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.030 1.000 3 2009 2015
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2014 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2010 2017
dbSNP: rs222747
rs222747
8 0.827 0.240 17 3589906 missense variant C/A;G;T snv 0.72; 4.5E-06 0.020 1.000 2 2017 2019
dbSNP: rs5277
rs5277
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs6267
rs6267
9 0.827 0.200 22 19962740 missense variant G/A;T snv 4.8E-05; 1.4E-02 0.020 1.000 2 2014 2017
dbSNP: rs748653984
rs748653984
2 1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2011
dbSNP: rs7958311
rs7958311
5 0.851 0.160 12 121167552 missense variant G/A;C snv 0.25; 4.0E-06 0.020 1.000 2 2012 2018
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs104894379
rs104894379
2 1.000 0.120 12 114398675 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs1051660
rs1051660
3 1.000 0.080 8 53251002 synonymous variant C/A;T snv 0.11 0.010 < 0.001 1 2017 2017
dbSNP: rs1172682117
rs1172682117
ERG
1 21 38403690 synonymous variant T/G snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs11988795
rs11988795
1 8 72037366 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913365
rs121913365
10 0.776 0.320 7 140753332 missense variant T/A;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1288779666
rs1288779666
2 1.000 0.120 22 42128944 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1292843126
rs1292843126
1 16 28975269 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs12948783
rs12948783
1 17 76503318 upstream gene variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1378978590
rs1378978590
1 17 49510504 stop gained C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1676486
rs1676486
7 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs17122021
rs17122021
1 11 118274971 regulatory region variant C/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2014 2014