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: rs1145612
rs1145612
1 1.000 0.120 5 158271107 upstream gene variant C/A snv 0.49 0.010 < 0.001 1 2019 2019
dbSNP: rs11567245
rs11567245
1 1.000 0.120 7 82151406 intron variant T/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs1241356540
rs1241356540
ACE
5 0.851 0.160 17 63497137 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1243046808
rs1243046808
2 0.925 0.160 6 43770758 missense variant C/G;T snv 2.0E-05; 9.8E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1373054855
rs1373054855
1 1.000 0.120 17 64370017 missense variant A/G snv 1.4E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs2230774
rs2230774
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 < 0.001 1 2010 2010
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 < 0.001 1 2014 2014
dbSNP: rs281865545
rs281865545
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.010 < 0.001 1 2002 2002
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs748352475
rs748352475
2 0.925 0.160 6 43777546 missense variant C/G snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs8192678
rs8192678
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 < 0.001 1 2005 2005
dbSNP: rs955333
rs955333
3 0.882 0.240 6 154626274 intergenic variant A/G snv 0.13 0.010 < 0.001 1 2017 2017
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.060 0.500 6 2006 2018
dbSNP: rs12150053
rs12150053
1 1.000 0.120 17 1761175 upstream gene variant T/A;C snv 0.020 0.500 2 2007 2009
dbSNP: rs12948385
rs12948385
1 1.000 0.120 17 1761607 upstream gene variant G/A snv 0.26 0.020 0.500 2 2007 2009
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.050 0.600 5 2005 2017
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.030 0.667 3 2006 2009
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.040 0.750 4 2003 2013
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.040 0.750 4 2010 2017
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 0.750 4 2005 2017
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.040 0.750 4 2013 2017
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.050 0.800 5 2006 2012
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.060 0.833 6 2010 2017