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: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs11568817
rs11568817
8 0.790 0.120 6 77463665 5 prime UTR variant A/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs130058
rs130058
8 0.790 0.120 6 77463564 5 prime UTR variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 0.500 2 2013 2018
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2010 2010
dbSNP: rs1843809
rs1843809
6 0.851 0.080 12 71954918 intron variant G/T snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs2402959
rs2402959
1 7 129765967 intron variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs2519152
rs2519152
DBH
2 1.000 0.040 9 133644512 intron variant T/C snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2020 2020
dbSNP: rs373611092
rs373611092
5 0.925 0.160 22 19962794 missense variant A/G snv 8.4E-05 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2017 2017
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2017 2017
dbSNP: rs6565113
rs6565113
3 0.925 0.040 16 83074041 intron variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6965643
rs6965643
1 7 129767724 intron variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs7794745
rs7794745
6 0.851 0.040 7 146792514 intron variant A/T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.010 1.000 1 2019 2019