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: rs9642880
rs9642880
9 0.776 0.240 8 127705823 intron variant G/A;T snv 0.760 1.000 9 2008 2015
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 1.000 8 2010 2015
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 1.000 8 2007 2014
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 1.000 8 2007 2014
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.080 0.875 8 2007 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2005 2013
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2010 2015
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2010 2015
dbSNP: rs11892031
rs11892031
5 0.882 0.120 2 233656637 intron variant A/C;T snv 0.730 0.750 4 2010 2015
dbSNP: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.720 1.000 4 2007 2019
dbSNP: rs9282861
rs9282861
31 0.658 0.440 16 28606193 missense variant C/T snv 0.040 1.000 4 2003 2017
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.030 0.667 3 2007 2013
dbSNP: rs121913485
rs121913485
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 3 2009 2014
dbSNP: rs17674580
rs17674580
3 0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv 0.730 1.000 3 2011 2014
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2011 2015
dbSNP: rs25648
rs25648
11 0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16 0.030 1.000 3 2010 2019
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.030 0.667 3 2017 2019
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.020 0.500 2 2004 2014
dbSNP: rs121913479
rs121913479
10 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.700 1.000 2 2009 2014
dbSNP: rs156697
rs156697
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.020 1.000 2 2012 2015
dbSNP: rs17855750
rs17855750
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.020 1.000 2 2015 2015
dbSNP: rs1800371
rs1800371
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.020 0.500 2 2011 2011
dbSNP: rs217727
rs217727
34 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 1.000 2 2016 2019
dbSNP: rs28931615
rs28931615
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.020 1.000 2 2006 2015
dbSNP: rs386675647
rs386675647
10 0.790 0.240 4 69098619 missense variant AT/TC mnv 0.020 1.000 2 2005 2008