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: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.800 1.000 1 2013 2013
dbSNP: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3733890
rs3733890
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2018 2018
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs8050136
rs8050136
FTO
32 0.716 0.560 16 53782363 intron variant C/A snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs137854539
rs137854539
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.020 0.500 2 2014 2015
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.020 1.000 2 2005 2009
dbSNP: rs6198
rs6198
16 0.724 0.480 5 143278056 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.050 1.000 5 2003 2018
dbSNP: rs142441643
rs142441643
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs121913293
rs121913293
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.080 1.000 8 2006 2013
dbSNP: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2015 2015
dbSNP: rs578776
rs578776
13 0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs8321
rs8321
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.800 1.000 1 2013 2013
dbSNP: rs587776667
rs587776667
14 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 0
dbSNP: rs3736228
rs3736228
13 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 0.010 1.000 1 2019 2019
dbSNP: rs1085307845
rs1085307845
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1554210073
rs1554210073
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0