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: rs1024905
rs1024905
2 1.000 0.040 12 4408974 downstream gene variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11759769
rs11759769
2 1.000 0.040 6 96617336 downstream gene variant G/A snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs35975099
rs35975099
1 3 172505416 downstream gene variant -/GAGT delins 0.010 1.000 1 2015 2015
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: rs548294
rs548294
2 1.000 0.040 5 153488877 upstream gene variant T/C snv 0.62 0.020 < 0.001 2 2015 2018
dbSNP: rs10737909
rs10737909
1 1 15222140 upstream gene variant G/T snv 0.45 0.800 1.000 1 2013 2013
dbSNP: rs12136856
rs12136856
1 1 156503322 upstream gene variant C/G snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs12845494
rs12845494
1 X 40905504 upstream gene variant C/G snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2013 2013
dbSNP: rs16904191
rs16904191
1 8 130021250 upstream gene variant A/G snv 0.36 0.800 1.000 1 2013 2013
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2010 2010
dbSNP: rs1965629
rs1965629
1 2 233916086 upstream gene variant A/G snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs2009658
rs2009658
4 0.882 0.160 6 31570467 upstream gene variant C/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs2844482
rs2844482
4 0.882 0.200 6 31571990 upstream gene variant C/T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs3754701
rs3754701
4 0.882 0.120 2 237858561 upstream gene variant A/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs3761555
rs3761555
2 1.000 0.040 X 123182584 upstream gene variant T/C snv 0.38 0.010 < 0.001 1 2015 2015
dbSNP: rs561561
rs561561
1 11 133959811 upstream gene variant A/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs5745946
rs5745946
1 1 12166729 upstream gene variant GCCGGGCAGGTGGAG/-;GCCGGGCAGGTGGAGGCCGGGCAGGTGGAG delins 0.30 0.010 1.000 1 2012 2012
dbSNP: rs673
rs673
TNF
4 0.882 0.080 6 31575318 upstream gene variant G/A snv 1.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2256368
rs2256368
1 10 112426866 splice region variant G/A snv 0.93 0.93 0.010 1.000 1 2016 2016
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: rs2506142
rs2506142
1 10 33179196 3 prime UTR variant A/G snv 0.21 0.710 1.000 2 2016 2018
dbSNP: rs4363087
rs4363087
3 0.925 0.160 7 73703866 3 prime UTR variant T/C snv 0.42 0.32 0.020 1.000 2 2009 2012
dbSNP: rs1047964
rs1047964
3 11 117286177 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2011 2011