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: rs7270101
rs7270101
10 0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02 0.070 0.857 7 2011 2018
dbSNP: rs6051702
rs6051702
3 0.882 0.120 20 3271278 intron variant A/C snv 0.19 0.040 1.000 4 2013 2020
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: rs373533
rs373533
2 0.925 0.160 19 6919613 missense variant A/C snv 0.77 0.73 0.010 1.000 1 2014 2014
dbSNP: rs6568431
rs6568431
7 0.790 0.320 6 106140931 intron variant A/C snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs33950542
rs33950542
HBB
1 1.000 0.040 11 5226665 missense variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 1997 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2009 2018
dbSNP: rs760370
rs760370
3 0.925 0.120 6 44233216 intron variant A/G snv 0.36 0.030 0.333 3 2015 2017
dbSNP: rs104894816
rs104894816
6 0.827 0.120 X 48792377 missense variant A/G snv 0.010 1.000 1 2002 2002
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: 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: 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: rs5744256
rs5744256
6 0.827 0.120 11 112152125 intron variant A/G snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs775910328
rs775910328
3 0.882 0.120 9 117713471 missense variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1060499688
rs1060499688
4 0.882 0.200 12 101753399 missense variant A/G snv 0.700 0
dbSNP: rs1114167422
rs1114167422
11 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
dbSNP: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.020 1.000 2 2013 2015
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: rs461645
rs461645
1 1.000 0.040 19 6919742 missense variant A/G;T snv 0.77 0.010 1.000 1 2014 2014
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 < 0.001 1 2006 2006
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: rs3775296
rs3775296
6 0.851 0.160 4 186076613 splice region variant C/A snv 0.18 0.18 0.010 1.000 1 2014 2014
dbSNP: rs7385804
rs7385804
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.010 < 0.001 1 2012 2012