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: rs1127354
rs1127354
21 0.685 0.321 20 3213196 missense variant C/A,G snp 7.5E-02 7.0E-02 0.800 0.833 13 2010 2018
dbSNP: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.040 1.000 4 2006 2010
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.030 0.333 3 2000 2007
dbSNP: rs7270101
rs7270101
8 0.784 0.143 20 3213247 intron variant A/C snp 8.7E-02 9.6E-02 0.030 0.667 3 2011 2014
dbSNP: rs104894815
rs104894815
9 0.784 0.071 X 48792337 missense variant G/A snp 0.020 1.000 2 2000 2012
dbSNP: rs855791
rs855791
26 0.715 0.393 22 37066896 missense variant A/G,T snp 0.57; 4.0E-06 0.65 0.020 1.000 2 2014 2015
dbSNP: rs104894808
rs104894808
4 0.878 0.071 X 48792376 missense variant G/T snp 0.010 1.000 1 2002 2002
dbSNP: rs104894816
rs104894816
5 0.846 0.071 X 48792377 missense variant A/G snp 0.010 1.000 1 2002 2002
dbSNP: rs1050828
rs1050828
12 0.846 0.143 X 154536002 missense variant C/T snp 9.1E-03 3.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs1050829
rs1050829
3 0.878 0.143 X 154535277 missense variant T/A,C snp 1.7E-04; 2.6E-02 8.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs113193886
rs113193886
38 0.608 0.464 7 143267671 missense variant A/T snp 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs11568350
rs11568350
6 0.846 0.143 2 189565370 missense variant C/A snp 3.8E-03 1.4E-02 0.010 1.000 1 2004 2004
dbSNP: rs11854484
rs11854484
2 0.923 0.107 15 45253280 missense variant C/T snp 0.47 0.46 0.010 1.000 1 2014 2014
dbSNP: rs121913615
rs121913615
MPL
15 0.734 0.179 1 43349338 missense variant G/C,T snp 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121918367
rs121918367
5 0.821 0.071 12 50999214 missense variant C/A,T snp 6.0E-05 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs13194491
rs13194491
6 1.000 0.036 6 27069301 intergenic variant C/T snp 4.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs1375515
rs1375515
1 1.000 0.036 3 54442613 intron variant C/T snp 0.59 0.010 1.000 1 2016 2016
dbSNP: rs1470452230
rs1470452230
2 0.923 0.107 9 135561895 missense variant A/C snp 3.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs1617640
rs1617640
EPO
10 0.801 0.321 7 100719675 regulatory region variant C/A,G,T snp 0.61 0.010 1.000 1 2015 2015
dbSNP: rs1695
rs1695
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.010 1.000 1 2014 2014
dbSNP: rs17235409
rs17235409
15 0.724 0.357 2 218395009 missense variant G/A,C snp 4.9E-02; 4.1E-06 4.0E-02; 3.2E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs1868505
rs1868505
1 1.000 0.036 3 54387228 intron variant T/C snp 0.86 0.010 1.000 1 2016 2016
dbSNP: rs1934951
rs1934951
3 0.923 0.143 10 95038791 intron variant C/T snp 0.24 0.010 1.000 1 2015 2015
dbSNP: rs28940298
rs28940298
VHL
8 0.784 0.214 3 10149921 missense variant C/T snp 2.1E-04 1.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs334
rs334
HBB
16 0.756 0.179 11 5227002 missense variant T/A,C,G snp 3.5E-03 1.2E-02 0.010 1.000 1 2014 2014