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: rs1064794259
rs1064794259
2 1.000 0.080 19 11113615 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs10911021
rs10911021
11 0.807 0.160 1 182112825 intron variant C/T snv 0.36 0.010 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 2014 2014
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: rs4646156
rs4646156
2 X 15578920 intron variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs4977574
rs4977574
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs7667298
rs7667298
KDR
7 0.827 0.120 4 55125564 5 prime UTR variant T/C snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs1555512158
rs1555512158
6 0.925 0.200 16 16177554 missense variant C/G snv 0.700 0
dbSNP: rs1555513085
rs1555513085
8 0.925 0.200 16 16182486 frameshift variant TCTC/- delins 0.700 0
dbSNP: rs1555514089
rs1555514089
4 0.925 0.200 16 16187213 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555514467
rs1555514467
6 1.000 0.160 16 16188897 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555520991
rs1555520991
5 0.925 0.200 16 16212248 splice acceptor variant T/C snv 0.700 0
dbSNP: rs199473620
rs199473620
2 1.000 0.080 3 38554372 stop gained C/A;T snv 0.700 0
dbSNP: rs2856597
rs2856597
5 0.925 0.200 16 16219935 missense variant C/T snv 3.0E-04 0.700 0
dbSNP: rs63749796
rs63749796
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs66492417
rs66492417
10 0.882 0.240 16 16178909 stop gained G/T snv 0.700 0
dbSNP: rs72664203
rs72664203
6 1.000 0.160 16 16219948 splice acceptor variant C/G snv 0.700 0
dbSNP: rs72664227
rs72664227
7 0.925 0.200 16 16182875 frameshift variant C/-;CC delins 7.0E-06 0.700 0
dbSNP: rs72664239
rs72664239
6 0.925 0.200 16 16150646 frameshift variant C/- delins 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: rs66864704
rs66864704
10 0.882 0.280 16 16188907 missense variant A/G snv 1.2E-04 3.6E-04 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: 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: rs146243018
rs146243018
1 18 22200698 missense variant C/G snv 2.5E-04 1.7E-04 0.010 1.000 1 2017 2017