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: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.030 1.000 3 2000 2000
dbSNP: rs12143966
rs12143966
2 1.000 0.040 1 247438055 intron variant G/A snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2016 2016
dbSNP: rs4925663
rs4925663
2 0.925 0.040 1 247451315 missense variant C/T snv 0.41 0.35 0.010 1.000 1 2019 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2006 2006
dbSNP: rs80356814
rs80356814
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs2943641
rs2943641
18 0.763 0.160 2 226229029 intergenic variant T/C snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs33997857
rs33997857
1 1.000 0.040 2 11787112 missense variant G/A;T snv 1.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs6708316
rs6708316
2 0.925 0.080 2 11797032 intron variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs79874540
rs79874540
4 0.925 0.080 2 231123707 stop gained G/A snv 1.5E-03 1.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs886041065
rs886041065
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.090 1.000 9 1999 2013
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.090 1.000 9 1999 2013
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 < 0.001 1 2010 2010
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2920502
rs2920502
6 0.851 0.160 3 12287696 intron variant G/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs3732581
rs3732581
9 0.790 0.120 3 183840614 missense variant C/G;T snv 0.46; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 < 0.001 1 2001 2001
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs8192678
rs8192678
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2010 2010
dbSNP: rs9997745
rs9997745
2 0.925 0.040 4 184816689 intron variant G/A snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2010 2010
dbSNP: rs2918419
rs2918419
2 0.925 0.040 5 143342788 intron variant T/C snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs4629571
rs4629571
2 0.925 0.160 5 75362479 intron variant A/G snv 8.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2017 2017