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: rs1555461176
rs1555461176
1 1.000 0.120 16 23634893 stop gained -/T delins 0.700 0
dbSNP: rs587776416
rs587776416
5 0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 0.700 0
dbSNP: rs80358451
rs80358451
2 0.925 0.160 13 32333140 missense variant T/G snv 5.6E-05 6.3E-05 0.700 0
dbSNP: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 < 0.001 1 2011 2011
dbSNP: rs13303010
rs13303010
2 0.925 0.120 1 959193 intron variant G/A snv 0.82 0.69 0.010 < 0.001 1 2018 2018
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs149617956
rs149617956
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 < 0.001 1 2014 2014
dbSNP: rs1517037
rs1517037
3 0.882 0.120 18 59211042 intergenic variant C/T snv 0.23 0.010 < 0.001 1 2018 2018
dbSNP: rs1800440
rs1800440
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs2094258
rs2094258
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs2235108
rs2235108
3 0.925 0.120 8 125436547 3 prime UTR variant G/A snv 0.25 0.010 < 0.001 1 2014 2014
dbSNP: rs2941471
rs2941471
4 0.851 0.240 8 75558169 intron variant G/A snv 0.65 0.010 < 0.001 1 2018 2018
dbSNP: rs2980874
rs2980874
2 0.925 0.120 8 125432546 intron variant G/A snv 0.30 0.010 < 0.001 1 2014 2014
dbSNP: rs2980879
rs2980879
3 0.925 0.120 8 125469233 intron variant A/T snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs4795218
rs4795218
2 0.925 0.120 17 37718512 intron variant A/G snv 0.82 0.010 < 0.001 1 2018 2018
dbSNP: rs486907
rs486907
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 < 0.001 1 2005 2005
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs78303930
rs78303930
NES
4 0.925 0.120 1 156670593 missense variant C/A;G snv 4.0E-06; 2.4E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs78417682
rs78417682
2 0.925 0.120 7 47449305 intron variant G/C snv 0.15 0.010 < 0.001 1 2018 2018
dbSNP: rs8034191
rs8034191
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.010 < 0.001 1 2011 2011
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2011 2011
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 0.500 2 2003 2015
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2003 2015
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2011 2011
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.600 5 2005 2020