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: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.833 12 2012 2018
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 0.625 8 2012 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2007 2019
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2011 2019
dbSNP: rs3212986
rs3212986
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.030 0.667 3 2017 2018
dbSNP: rs1057519736
rs1057519736
13 0.752 0.160 15 90088605 missense variant C/G snv 0.020 1.000 2 2013 2014
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2009
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2009 2011
dbSNP: rs17206779
rs17206779
3 0.882 0.040 5 65151950 splice region variant C/G;T snv 0.48 0.810 1.000 2 2013 2014
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 0.500 2 2015 2017
dbSNP: rs2070699
rs2070699
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.020 0.500 2 2013 2014
dbSNP: rs2298881
rs2298881
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.720 1.000 2 2007 2012
dbSNP: rs780673045
rs780673045
3 0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05 0.020 1.000 2 1999 2004
dbSNP: rs820196
rs820196
6 0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26 0.020 1.000 2 2014 2015
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2007 2009
dbSNP: rs10019009
rs10019009
4 0.851 0.080 4 87661983 missense variant A/G;T snv 4.0E-06; 0.29 0.010 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1052667
rs1052667
6 0.882 0.040 19 47004177 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519902
rs1057519902
16 0.742 0.160 1 226064451 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1060501205
rs1060501205
5 0.827 0.120 17 7673749 missense variant TG/GT mnv 0.010 1.000 1 2008 2008
dbSNP: rs11177386
rs11177386
3 0.882 0.040 12 68820362 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1136201
rs1136201
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1215600806
rs1215600806
4 0.851 0.120 1 21564100 missense variant T/C snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs12190287
rs12190287
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017