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: rs80338880
rs80338880
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs200249435
rs200249435
5 0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 8.3E-06 0.010 1.000 1 2008 2008
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3844283
rs3844283
3 0.882 0.200 3 10222796 missense variant C/G snv 0.37 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1222174664
rs1222174664
5 0.827 0.280 5 102477801 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.030 1.000 3 2016 2019
dbSNP: rs27647
rs27647
2 0.925 0.120 3 10290784 5 prime UTR variant C/T snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs2629751
rs2629751
2 0.925 0.120 12 104028030 intron variant A/G snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs878859113
rs878859113
11 0.763 0.360 6 106971734 missense variant G/A snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1297986
rs1297986
2 1.000 0.080 3 107912675 intron variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs76810409
rs76810409
1 1.000 0.080 7 109456395 TF binding site variant C/T snv 2.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.030 1.000 3 2012 2016
dbSNP: rs12711521
rs12711521
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.020 1.000 2 2008 2011
dbSNP: rs72550870
rs72550870
8 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 1.000 1 2008 2008
dbSNP: rs5930
rs5930
8 0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66 0.020 1.000 2 2009 2015
dbSNP: rs72658864
rs72658864
4 0.925 0.160 19 11116886 missense variant T/C snv 2.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs688
rs688
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.020 1.000 2 2019 2019
dbSNP: rs5925
rs5925
7 0.851 0.200 19 11120205 synonymous variant T/C snv 0.42 0.37 0.010 1.000 1 2019 2019
dbSNP: rs2569540
rs2569540
1 1.000 0.080 19 11127563 non coding transcript exon variant C/G snv 0.68 0.010 1.000 1 2014 2014
dbSNP: rs14158
rs14158
5 0.851 0.160 19 11131368 synonymous variant G/A snv 0.24 0.22 0.030 1.000 3 2011 2013
dbSNP: rs1433099
rs1433099
3 0.882 0.160 19 11131982 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs6726639
rs6726639
1 1.000 0.080 2 111995520 intron variant A/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.710 1.000 2 2012 2018
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.020 1.000 2 2009 2019