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: rs10895068
rs10895068
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
dbSNP: rs184752888
rs184752888
4 0.882 0.120 6 32977847 missense variant G/A snv 0.020 0.500 2 2004 2009
dbSNP: rs1440086679
rs1440086679
2 0.925 0.120 6 32979854 missense variant C/T snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs2293275
rs2293275
4 0.851 0.160 2 48694236 missense variant T/C snv 0.61 0.51 0.010 1.000 1 2019 2019
dbSNP: rs4073366
rs4073366
1 1.000 0.080 2 48755483 intron variant C/G snv 0.19 0.16 0.010 1.000 1 2013 2013
dbSNP: rs6166
rs6166
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.030 0.667 3 2004 2009
dbSNP: rs386833511
rs386833511
3 0.882 0.200 2 48963097 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs28928871
rs28928871
1 1.000 0.080 2 48963122 missense variant C/T snv 0.810 1.000 8 2003 2015
dbSNP: rs121909664
rs121909664
1 1.000 0.080 2 48963187 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs28928870
rs28928870
1 1.000 0.080 2 48963475 missense variant G/A;T snv 4.0E-06 0.810 1.000 8 2003 2015
dbSNP: rs121909663
rs121909663
1 1.000 0.080 2 48963476 missense variant T/C snv 0.700 0
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.020 0.500 2 2004 2009
dbSNP: rs121909658
rs121909658
8 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs121909659
rs121909659
2 0.925 0.160 2 48989022 missense variant A/G;T snv 4.0E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121909665
rs121909665
2 0.925 0.160 2 48990629 missense variant G/T snv 0.810 1.000 8 2003 2018
dbSNP: rs41308602
rs41308602
1 1.000 0.080 X 50911091 missense variant A/G snv 5.7E-02 5.1E-02 0.010 1.000 1 2006 2006
dbSNP: rs10046
rs10046
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 < 0.001 1 2008 2008
dbSNP: rs1870378
rs1870378
KDR
1 1.000 0.080 4 55100286 intron variant C/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2305945
rs2305945
KDR
1 1.000 0.080 4 55105679 intron variant G/T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs2305948
rs2305948
KDR
18 0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11 0.010 1.000 1 2014 2014
dbSNP: rs6259
rs6259
27 0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02 0.010 1.000 1 2019 2019