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: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 2 2011 2017
dbSNP: rs7385804
rs7385804
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 2 2011 2014
dbSNP: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.700 1.000 2 2014 2017
dbSNP: rs111722075
rs111722075
2 6 25373818 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs113507773
rs113507773
2 6 26255511 upstream gene variant G/A snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs115809796
rs115809796
1 6 25657063 intron variant A/G snv 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs117910189
rs117910189
ERG
1 21 38606304 intron variant T/C snv 1.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs142471762
rs142471762
1 6 32663606 non coding transcript exon variant TAGGATAT/- delins 6.2E-04 0.700 1.000 1 2017 2017
dbSNP: rs143130997
rs143130997
2 6 109780207 intron variant G/A snv 5.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs146680938
rs146680938
1 20 32809593 downstream gene variant C/T snv 9.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs150548770
rs150548770
2 5 55020802 intron variant T/C snv 5.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs181143083
rs181143083
2 6 157434218 intron variant T/A snv 7.5E-04 0.700 1.000 1 2017 2017
dbSNP: rs202056061
rs202056061
2 6 25494109 intron variant AGTT/- delins 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs210368
rs210368
1 14 53669290 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs228916
rs228916
1 22 37109512 5 prime UTR variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2315834
rs2315834
1 8 134507604 intron variant C/T snv 3.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs2442120
rs2442120
2 5 118970884 intron variant A/C snv 0.98 0.700 1.000 1 2017 2017
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs41270472
rs41270472
1 6 32213740 synonymous variant A/C;T snv 2.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs4820268
rs4820268
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs73373322
rs73373322
2 17 77385957 intron variant C/T snv 3.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs7588567
rs7588567
3 0.925 0.040 2 133605461 regulatory region variant T/A;C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs8177240
rs8177240
TF
5 3 133758857 intron variant T/C;G snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs987710
rs987710
4 1.000 0.040 22 22158022 intron variant G/A snv 0.61 0.700 1.000 1 2011 2011