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: rs2651899
rs2651899
5 0.882 0.040 1 3167148 intron variant T/A;C snv 0.880 1.000 9 2011 2020
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: 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: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2011 2013
dbSNP: rs1925950
rs1925950
1 1 156480948 missense variant G/A;C snv 0.62 0.800 1.000 2 2012 2016
dbSNP: rs202206511
rs202206511
1 1 156486509 intron variant -/T delins 0.700 1.000 2 2012 2013
dbSNP: rs2271933
rs2271933
9 0.807 0.080 1 31626924 missense variant A/G snv 0.56 0.50 0.020 1.000 2 2018 2019
dbSNP: rs228648
rs228648
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.020 1.000 2 2016 2017
dbSNP: rs2890565
rs2890565
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.020 1.000 2 2016 2017
dbSNP: rs3790455
rs3790455
1 1 156486509 intron variant C/T snv 0.54 0.800 1.000 2 2012 2013
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 1.000 2 2009 2015
dbSNP: rs10218452
rs10218452
1 1 3159033 intron variant A/G snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs1050316
rs1050316
3 1 156464911 3 prime UTR variant G/T snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs10737909
rs10737909
1 1 15222140 upstream gene variant G/T snv 0.45 0.800 1.000 1 2013 2013
dbSNP: rs12135062
rs12135062
1 1 3186748 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12136856
rs12136856
1 1 156503322 upstream gene variant C/G snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs1572668
rs1572668
1 1 73434059 intergenic variant A/G snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs17301853
rs17301853
2 1.000 0.040 1 174583673 intron variant C/T snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs1890566
rs1890566
1 1 54202605 intron variant A/G snv 0.35 0.800 1.000 1 2013 2013
dbSNP: rs1923243
rs1923243
1 1 73402703 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2075968
rs2075968
1 1 3164677 intron variant C/T snv 0.23 0.700 1.000 1 2016 2016