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: rs760370
rs760370
3 0.925 0.120 6 44233216 intron variant A/G snv 0.36 0.030 0.333 3 2015 2017
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.020 1.000 2 2012 2020
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: rs1375515
rs1375515
1 1.000 0.040 3 54442613 intron variant C/T snv 0.58 0.010 1.000 1 2015 2015
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: rs1868505
rs1868505
1 1.000 0.040 3 54387228 intron variant T/C snv 0.86 0.010 1.000 1 2015 2015
dbSNP: rs1934951
rs1934951
4 0.925 0.160 10 95038791 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs2071346
rs2071346
3 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs2245214
rs2245214
6 0.827 0.240 6 106214866 intron variant C/G snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.010 < 0.001 1 2012 2012
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: rs6568431
rs6568431
7 0.790 0.320 6 106140931 intron variant A/C snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs7072268
rs7072268
HK1
2 0.925 0.120 10 69340157 intron variant T/C snv 0.54 0.010 1.000 1 2009 2009
dbSNP: rs7385804
rs7385804
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.010 < 0.001 1 2012 2012
dbSNP: rs987710
rs987710
4 1.000 0.040 22 22158022 intron variant G/A snv 0.61 0.700 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: 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: rs559063155
rs559063155
14 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs33950507
rs33950507
HBB
8 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 0
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.900 0.900 20 2010 2020
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2006 2015
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