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: rs121918714
rs121918714
5 0.923 0.071 3 30691471 missense variant G/C snp 0.700 1 2000 2000
dbSNP: rs2231917
rs2231917
1 1.000 0.071 5 41925333 missense variant C/G snp 2.0E-02 8.3E-03 0.700 1 2008 2008
dbSNP: rs28934578
rs28934578
27 0.647 0.357 17 7675088 missense variant snp 4.0E-06 0.700 0
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.030 1.000 3 2009 2014
dbSNP: rs1229984
rs1229984
50 0.622 0.393 4 99318162 missense variant T/C,G snp 0.90 0.94 0.030 1.000 3 2011 2016
dbSNP: rs2234922
rs2234922
28 0.652 0.321 1 225838705 missense variant A/G,T snp 0.19; 2.8E-05 0.23 0.030 0.667 3 2010 2015
dbSNP: rs2273535
rs2273535
22 0.679 0.250 20 56386485 missense variant A/C,T snp 0.28 0.23 0.030 1.000 3 2007 2014
dbSNP: rs2274223
rs2274223
17 0.699 0.250 10 94306584 missense variant A/G snp 0.28 0.31 0.030 1.000 3 2013 2014
dbSNP: rs671
rs671
61 0.593 0.464 12 111803962 missense variant G/A snp 1.9E-02 1.3E-02 0.030 1.000 3 2013 2017
dbSNP: rs758272654
rs758272654
28 0.667 0.536 20 58909201 synonymous variant T/C snp 4.0E-06 0.030 1.000 3 2009 2015
dbSNP: rs1051740
rs1051740
29 0.647 0.429 1 225831932 missense variant T/C snp 0.32 0.28 0.020 < 0.001 2 2013 2015
dbSNP: rs11615
rs11615
23 0.667 0.286 19 45420395 synonymous variant A/G snp 0.50 0.54 0.020 1.000 2 2012 2017
dbSNP: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.020 0.500 2 2008 2015
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.020 1.000 2 2009 2013
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.020 0.500 2 2009 2013
dbSNP: rs353163
rs353163
4 0.878 0.071 4 67919056 missense variant T/A,C,G snp 0.67 0.73 0.020 0.500 2 2006 2014
dbSNP: rs1014867
rs1014867
3 0.923 0.071 4 125491736 missense variant C/T snp 4.9E-02 5.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs1039808
rs1039808
3 0.923 0.071 4 125318831 missense variant C/G,T snp 4.0E-06; 0.41 0.46 0.010 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.010 1.000 1 2011 2011
dbSNP: rs1047972
rs1047972
15 0.707 0.214 20 56386407 missense variant T/C snp 0.85 0.84 0.010 1.000 1 2012 2012
dbSNP: rs104894230
rs104894230
42 0.615 0.464 11 534288 missense variant C/A,G,T snp 0.010 1.000 1 2012 2012
dbSNP: rs1051266
rs1051266
28 0.647 0.500 21 45537880 missense variant T/C,G snp 0.55; 4.4E-06 0.51 0.010 1.000 1 2007 2007
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.010 1.000 1 2001 2001
dbSNP: rs1130409
rs1130409
45 0.590 0.500 14 20456995 missense variant T/A,C,G snp 4.0E-06; 4.0E-06; 0.42 0.44 0.010 < 0.001 1 2016 2016
dbSNP: rs121912657
rs121912657
22 0.679 0.464 17 7673806 missense variant C/A,T snp 4.0E-06 0.010 1.000 1 2002 2002