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: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.020 1.000 2 2007 2016
dbSNP: rs10965235
rs10965235
1 1.000 0.040 9 22115106 intron variant C/A snv 0.15 0.820 1.000 2 2010 2014
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.020 1.000 2 2010 2015
dbSNP: rs11556218
rs11556218
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.020 0.500 2 2010 2018
dbSNP: rs11674184
rs11674184
1 1.000 0.040 2 11581409 intron variant T/A;G snv 0.710 0.500 2 2017 2019
dbSNP: rs1445081098
rs1445081098
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.020 1.000 2 2014 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2016 2020
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 0.500 2 2009 2016
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2008 2009
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2004 2010
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2004 2010
dbSNP: rs3761549
rs3761549
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.020 1.000 2 2011 2012
dbSNP: rs4072111
rs4072111
16 0.716 0.400 15 81285798 missense variant C/T snv 0.17 0.11 0.020 0.500 2 2016 2018
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2011 2019
dbSNP: rs4986938
rs4986938
35 0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 0.020 0.500 2 2008 2014
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.020 0.500 2 2012 2019
dbSNP: rs6542095
rs6542095
1 1.000 0.040 2 112771606 downstream gene variant C/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs6907340
rs6907340
1 1.000 0.040 6 19803537 non coding transcript exon variant C/T snv 0.47 0.800 1.000 2 2012 2013
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 0.500 2 2013 2020
dbSNP: rs700519
rs700519
11 0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02 0.020 1.000 2 2005 2012
dbSNP: rs743572
rs743572
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.020 0.500 2 2013 2018
dbSNP: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.020 1.000 2 2012 2013
dbSNP: rs7582694
rs7582694
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.020 1.000 2 2016 2019
dbSNP: rs7739264
rs7739264
1 1.000 0.040 6 19785357 intron variant C/G;T snv 0.810 1.000 2 2012 2015
dbSNP: rs10129516
rs10129516
1 1.000 0.040 14 63133372 intron variant T/A;C snv 0.710 < 0.001 1 2017 2017