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: rs1075650
rs1075650
1 9 129176634 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs12043259
rs12043259
2 1 204858913 intron variant C/G snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs1212415280
rs1212415280
2 6 43771130 missense variant G/T snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs16918875
rs16918875
1 8 53229594 synonymous variant G/A snv 4.3E-02 7.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs17228602
rs17228602
2 7 100890786 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs1875999
rs1875999
1 5 76969157 3 prime UTR variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs2073837
rs2073837
1 9 133657806 intron variant G/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs2377339
rs2377339
2 2 105840835 intron variant A/G snv 4.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs382140
rs382140
1 7 108141755 intergenic variant A/G snv 0.74 0.010 1.000 1 2012 2012
dbSNP: rs7118900
rs7118900
1 11 113396099 missense variant G/A snv 0.25 0.25 0.010 1.000 1 2011 2011
dbSNP: rs772527880
rs772527880
1 2 227531108 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs963549
rs963549
1 8 53229264 synonymous variant C/T snv 0.17 0.24 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2013 2013
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2004 2013
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.090 1.000 9 2004 2019
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.020 1.000 2 2013 2017
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2018 2018
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.050 1.000 5 2004 2020
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2020 2020
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: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2016 2016