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: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs68073206
rs68073206
2 1.000 0.040 2 48721568 3 prime UTR variant A/C snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2007 2016
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs140506267
rs140506267
2 0.925 0.040 9 894044 missense variant A/G snv 2.7E-03 1.3E-03 0.010 1.000 1 2020 2020
dbSNP: rs1800447
rs1800447
LHB
4 0.851 0.200 19 49016648 missense variant A/G snv 6.5E-02 7.6E-02 0.010 < 0.001 1 2003 2003
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs34349826
rs34349826
LHB
4 0.851 0.200 19 49016626 missense variant A/G snv 4.9E-02 7.5E-02 0.010 < 0.001 1 2003 2003
dbSNP: rs587781908
rs587781908
2 0.925 0.040 7 6005973 missense variant A/G snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs768767532
rs768767532
1 1.000 0.040 6 22296961 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs995030
rs995030
9 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs1335054067
rs1335054067
1 1.000 0.040 X 30308211 missense variant C/A snv 1.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs222859
rs222859
1 1.000 0.040 17 7294475 missense variant C/A snv 0.72 0.80 0.010 1.000 1 2016 2016
dbSNP: rs10269148
rs10269148
2 0.925 0.040 7 135230056 upstream gene variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2008 2008
dbSNP: rs34075659
rs34075659
1 1.000 0.040 14 24172747 missense variant C/G;T snv 2.4E-05; 3.0E-03 0.010 1.000 1 2020 2020
dbSNP: rs6080550
rs6080550
5 0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs2075789
rs2075789
6 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 0.020 1.000 2 2010 2012
dbSNP: rs10129954
rs10129954
2 1.000 0.040 14 72683993 intron variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2016 2016
dbSNP: rs11677854
rs11677854
1 1.000 0.040 2 48664148 intron variant C/T snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs1800477
rs1800477
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 1.000 1 2010 2010
dbSNP: rs188541504
rs188541504
3 0.925 0.040 19 374362 missense variant C/T snv 8.0E-05 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2018 2018