Source: ALL
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: rs17568
rs17568
TNFRSF4
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2013 2013
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs118204071
rs118204071
LPL
2 0.925 0.080 8 19959322 missense variant G/A snv 0.800 1.000 1 2012 2012
dbSNP: rs118204073
rs118204073
LPL
2 0.925 0.120 8 19951825 missense variant A/C snv 4.0E-06 7.0E-06 0.800 1.000 1 2012 2012
dbSNP: rs118204075
rs118204075
LPL
1 1.000 0.080 8 19954243 missense variant G/A snv 0.800 1.000 1 2012 2012
dbSNP: rs118204077
rs118204077
LPL
1 1.000 0.080 8 19955873 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 1 2012 2012
dbSNP: rs118204078
rs118204078
LPL
2 0.925 0.080 8 19960935 missense variant C/G snv 0.800 1.000 1 2012 2012
dbSNP: rs118204079
rs118204079
LPL
1 1.000 0.080 8 19962126 missense variant G/A snv 0.800 1.000 1 2012 2012
dbSNP: rs118204080
rs118204080
LPL
1 1.000 0.080 8 19954333 missense variant T/C snv 2.0E-05 0.800 1.000 1 2012 2012
dbSNP: rs145844329
rs145844329
GPIHBP1
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: rs587777640
rs587777640
GPIHBP1
2 0.925 0.080 8 143215097 missense variant G/T snv 0.010 1.000 1 2011 2011
dbSNP: rs121909397
rs121909397
LMF1
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
APOL1
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: rs201079485
rs201079485
ZPR1 ; APOA5
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
APOL1
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
APOA5
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: rs118204082
rs118204082
LPL
4 0.851 0.120 8 19955863 missense variant C/G;T snv 1.5E-04 0.810 1.000 2 2000 2012
dbSNP: rs773891125
rs773891125
LPL
6 0.827 0.120 8 19955896 frameshift variant CT/- delins 0.020 1.000 2 2000 2016
dbSNP: rs35414700
rs35414700
LPL
2 1.000 0.080 8 19955901 missense variant T/G snv 1.2E-05 1.4E-05 0.710 1.000 1 2000 2000
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: 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: rs118204072
rs118204072
LPL
1 1.000 0.080 8 19954174 missense variant C/G;T snv 4.0E-06 0.810 1.000 2 1993 2012
dbSNP: rs118204076
rs118204076
LPL
1 1.000 0.080 8 19954199 missense variant C/G;T snv 1.2E-05 0.810 1.000 2 1993 2012
dbSNP: rs118204061
rs118204061
LPL
1 1.000 0.080 8 19954240 missense variant T/C snv 1.6E-05 4.2E-05 0.800 1.000 29 1990 2016
dbSNP: rs118204057
rs118204057
LPL
16 0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04 0.860 0.963 27 1990 2012