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: rs1057518775
rs1057518775
4 0.851 0.160 11 17387907 missense variant G/A;C snv 0.700 0
dbSNP: rs193922479
rs193922479
2 0.925 0.080 20 44424116 missense variant C/A;T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs587777732
rs587777732
9 0.763 0.240 20 44406195 missense variant C/T snv 0.700 0
dbSNP: rs886041065
rs886041065
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 1996 1996
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: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.030 1.000 3 2000 2000
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
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: rs137852671
rs137852671
10 0.790 0.160 11 17394295 missense variant C/T snv 0.020 1.000 2 2003 2011
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: rs148969251
rs148969251
1 1.000 0.040 11 120480110 missense variant A/G snv 3.3E-02 1.3E-02 0.010 1.000 1 2006 2006
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: rs1057515572
rs1057515572
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
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: rs9402571
rs9402571
4 0.882 0.080 6 134167822 downstream gene variant T/G snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs587777260
rs587777260
2 0.925 0.080 13 75359852 stop gained G/A;T snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs1016862
rs1016862
1 1.000 0.040 18 60371844 missense variant A/C snv 0.010 1.000 1 2009 2009
dbSNP: rs1316381133
rs1316381133
1 1.000 0.040 18 60371445 missense variant T/A snv 8.0E-06 0.010 1.000 1 2009 2009
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: 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: 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: 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: rs225014
rs225014
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2010 2010