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: rs121909397
rs121909397
3 0.925 0.080 16 869982 stop gained G/A;C snv 1.6E-04; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs136175
rs136175
2 0.925 0.120 22 36265520 missense variant G/A;C;T snv 0.84; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs145844329
rs145844329
3 0.882 0.120 8 143215486 missense variant G/A;C snv 2.5E-05; 8.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs17568
rs17568
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2013 2013
dbSNP: rs201079485
rs201079485
4 0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2239785
rs2239785
5 0.827 0.240 22 36265284 missense variant G/A snv 0.79 0.68 0.010 1.000 1 2009 2009
dbSNP: rs3135506
rs3135506
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs3850641
rs3850641
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs587777640
rs587777640
2 0.925 0.080 8 143215097 missense variant G/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1801177
rs1801177
LPL
14 0.742 0.240 8 19948197 missense variant G/A;C snv 1.4E-02; 2.0E-05 0.020 1.000 2 1996 1996
dbSNP: rs773891125
rs773891125
LPL
6 0.827 0.120 8 19955896 frameshift variant CT/- delins 0.020 1.000 2 2000 2016
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.030 1.000 3 1999 2019
dbSNP: rs1181582051
rs1181582051
LPL
1 1.000 0.080 8 19956048 missense variant T/C snv 4.0E-06 0.700 1.000 20 1990 2005
dbSNP: rs149089920
rs149089920
LPL
3 0.925 0.120 8 19962134 missense variant G/A snv 6.0E-05 2.1E-04 0.700 1.000 20 1990 2005
dbSNP: rs373088068
rs373088068
LPL
1 1.000 0.080 8 19951805 missense variant G/C snv 9.9E-05 1.3E-04 0.700 1.000 20 1990 2005
dbSNP: rs546542623
rs546542623
LPL
1 1.000 0.080 8 19959335 missense variant C/T snv 2.0E-05 0.700 1.000 20 1990 2005
dbSNP: rs761265900
rs761265900
LPL
1 1.000 0.080 8 19956040 missense variant C/G snv 1.2E-05 7.0E-06 0.700 1.000 20 1990 2005
dbSNP: rs770601263
rs770601263
LPL
1 1.000 0.080 8 19954273 missense variant T/G snv 8.0E-06 0.700 1.000 20 1990 2005
dbSNP: rs773235712
rs773235712
LPL
1 1.000 0.080 8 19955978 missense variant T/C snv 4.0E-06 0.700 1.000 20 1990 2005
dbSNP: rs781614031
rs781614031
LPL
1 1.000 0.080 8 19954125 missense variant G/A;C snv 4.0E-06 0.700 1.000 20 1990 2005
dbSNP: rs1161884343
rs1161884343
LPL
1 1.000 0.080 8 19955930 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs118204058
rs118204058
LPL
1 1.000 0.080 8 19951916 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs118204065
rs118204065
LPL
1 1.000 0.080 8 19951783 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs118204066
rs118204066
LPL
1 1.000 0.080 8 19960988 stop gained G/A snv 0.700 0
dbSNP: rs118204070
rs118204070
LPL
1 1.000 0.080 8 19951791 stop gained G/A snv 4.0E-06 3.5E-05 0.700 0