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: rs281432
rs281432
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs1064794259
rs1064794259
2 1.000 0.080 19 11113615 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs770696696
rs770696696
2 1.000 0.080 19 11113738 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs370588269
rs370588269
1 8 11756964 missense variant G/A snv 2.4E-05 7.0E-05 0.010 1.000 1 2017 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 2014 2014
dbSNP: rs1108580
rs1108580
DBH
9 0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 0.010 1.000 1 2014 2014
dbSNP: rs4646156
rs4646156
2 X 15578920 intron variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs72664239
rs72664239
6 0.925 0.200 16 16150646 frameshift variant C/- delins 0.700 0
dbSNP: rs63751241
rs63751241
12 0.882 0.280 16 16154638 missense variant C/T snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs63750428
rs63750428
6 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05 0.700 0
dbSNP: rs63751111
rs63751111
7 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 0.700 0
dbSNP: rs63750622
rs63750622
9 0.925 0.200 16 16154898 missense variant C/A;G;T snv 4.1E-06; 4.1E-06; 1.6E-05 0.700 0
dbSNP: rs28939702
rs28939702
13 0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 0.700 0
dbSNP: rs63750759
rs63750759
11 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
dbSNP: rs63750410
rs63750410
9 0.882 0.240 16 16155007 missense variant C/G;T snv 6.0E-06; 1.2E-05 0.700 0
dbSNP: rs63749856
rs63749856
11 0.851 0.200 16 16155010 missense variant C/T snv 4.8E-05 2.8E-05 0.700 0
dbSNP: rs965791272
rs965791272
6 1.000 0.160 16 16155041 non coding transcript exon variant G/A;C;T snv 0.700 0
dbSNP: rs72664233
rs72664233
10 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
dbSNP: rs63749796
rs63749796
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs63751001
rs63751001
13 0.790 0.240 16 16159555 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs72653744
rs72653744
14 0.807 0.320 16 16163009 stop gained G/A snv 1.7E-04 1.2E-04 0.700 0
dbSNP: rs72653706
rs72653706
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
dbSNP: rs60791294
rs60791294
11 0.882 0.280 16 16163086 missense variant C/G;T snv 7.6E-05 0.700 0
dbSNP: rs63750459
rs63750459
13 0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05 0.700 0
dbSNP: rs63749794
rs63749794
7 0.925 0.160 16 16163159 missense variant G/A snv 9.2E-05 4.2E-05 0.700 0