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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.968 31 2000 2019
dbSNP: rs10166942
rs10166942
4 0.925 0.040 2 233916448 upstream gene variant T/C snv 0.40 0.870 1.000 10 2011 2019
dbSNP: rs11172113
rs11172113
10 0.882 0.080 12 57133500 intron variant T/C snv 0.42 0.850 1.000 9 2011 2019
dbSNP: rs2651899
rs2651899
5 0.882 0.040 1 3167148 intron variant T/A;C snv 0.880 1.000 9 2011 2020
dbSNP: rs1835740
rs1835740
5 0.882 0.040 8 97154685 intergenic variant T/C snv 0.75 0.860 1.000 6 2010 2018
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.060 0.667 6 2006 2019
dbSNP: rs12134493
rs12134493
4 0.925 0.040 1 115135325 TF binding site variant C/A snv 9.2E-02 0.830 0.800 5 2013 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2003 2018
dbSNP: rs2274316
rs2274316
3 0.925 0.040 1 156476450 intron variant C/A snv 0.62 0.54 0.820 0.500 4 2012 2017
dbSNP: rs4379368
rs4379368
3 0.925 0.040 7 40426601 intron variant C/T snv 0.12 0.830 1.000 4 2013 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 0.750 4 2008 2017
dbSNP: rs6275
rs6275
7 0.851 0.160 11 113412755 synonymous variant A/G snv 0.64 0.58 0.040 0.750 4 2012 2015
dbSNP: rs9349379
rs9349379
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.800 1.000 4 2012 2016
dbSNP: rs10456100
rs10456100
2 1.000 0.040 6 39215694 intron variant C/T snv 0.20 0.800 1.000 3 2013 2016
dbSNP: rs10504861
rs10504861
3 0.925 0.040 8 88535703 intron variant C/T snv 0.23 0.720 0.667 3 2013 2017
dbSNP: rs10915437
rs10915437
2 1.000 0.040 1 4122946 intergenic variant A/G snv 0.29 0.820 0.667 3 2013 2017
dbSNP: rs2078371
rs2078371
2 1.000 0.040 1 115134562 regulatory region variant T/C snv 0.14 0.720 1.000 3 2013 2018
dbSNP: rs6478241
rs6478241
3 0.925 0.040 9 116490350 intron variant A/G;T snv 0.800 1.000 3 2012 2016
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.030 0.333 3 2010 2014
dbSNP: rs867770797
rs867770797
8 0.851 0.200 4 147519875 missense variant G/A snv 0.030 1.000 3 2001 2011
dbSNP: rs1042838
rs1042838
PGR
12 0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06 0.020 0.500 2 2010 2015
dbSNP: rs1043994
rs1043994
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.020 1.000 2 2006 2015
dbSNP: rs11624776
rs11624776
3 14 93129246 regulatory region variant A/C;T snv 0.700 1.000 2 2016 2016
dbSNP: rs13208321
rs13208321
1 6 96412478 intron variant A/G;T snv 0.020 1.000 2 2015 2017
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 1.000 2 2012 2017