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: rs10132552
rs10132552
3 1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs104894808
rs104894808
4 0.851 0.120 X 48792376 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs104894816
rs104894816
6 0.827 0.120 X 48792377 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1050828
rs1050828
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1050829
rs1050829
5 0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs10761745
rs10761745
3 0.882 0.240 10 63341311 intron variant G/C snv 0.87 0.010 1.000 1 2017 2017
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2015 2015
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs11568350
rs11568350
9 0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 0.010 1.000 1 2004 2004
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2015 2015
dbSNP: rs11854484
rs11854484
2 0.925 0.120 15 45253280 missense variant C/T snv 0.47 0.45 0.010 1.000 1 2013 2013
dbSNP: rs1196547982
rs1196547982
2 0.925 0.120 4 153703650 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121908117
rs121908117
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121918367
rs121918367
5 0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs12762549
rs12762549
1 1.000 0.040 10 99861014 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs13194491
rs13194491
5 1.000 0.040 6 27069301 intergenic variant C/T snv 4.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs1375515
rs1375515
1 1.000 0.040 3 54442613 intron variant C/T snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs1470452230
rs1470452230
2 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1531289
rs1531289
KDR
2 0.925 0.080 4 55089065 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1555545033
rs1555545033
7 0.807 0.160 17 40088306 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2015 2015