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: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.040 0.750 4 1984 2004
dbSNP: rs267606664
rs267606664
5 0.851 0.120 19 44908730 missense variant G/A;C snv 1.6E-04; 6.3E-06 0.020 1.000 2 1984 1997
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.040 0.750 4 1993 2004
dbSNP: rs267606661
rs267606661
10 0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05 0.030 0.667 3 1993 1997
dbSNP: rs199768005
rs199768005
4 0.882 0.160 19 44909057 missense variant T/A snv 4.5E-04 4.9E-04 0.010 1.000 1 1994 1994
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.060 0.667 6 1995 2000
dbSNP: rs120074114
rs120074114
2 19 44948767 missense variant A/C snv 6.9E-04 7.0E-04 0.010 1.000 1 1995 1995
dbSNP: rs118204057
rs118204057
LPL
16 0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04 0.030 1.000 3 1998 2020
dbSNP: rs149089920
rs149089920
LPL
3 0.925 0.120 8 19962134 missense variant G/A snv 6.0E-05 2.1E-04 0.010 1.000 1 1998 1998
dbSNP: rs573658040
rs573658040
9 0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06 0.010 1.000 1 1998 1998
dbSNP: rs879254693
rs879254693
7 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.010 1.000 1 1998 1998
dbSNP: rs371282890
rs371282890
LPL
6 0.827 0.120 8 19955900 missense variant C/G snv 1.1E-04 6.3E-05 0.030 1.000 3 2000 2016
dbSNP: rs773891125
rs773891125
LPL
6 0.827 0.120 8 19955896 frameshift variant CT/- delins 0.030 1.000 3 2000 2016
dbSNP: rs35414700
rs35414700
LPL
2 1.000 0.080 8 19955901 missense variant T/G snv 1.2E-05 1.4E-05 0.020 1.000 2 2000 2018
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs121918394
rs121918394
5 0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06 0.010 1.000 1 2000 2000
dbSNP: rs1801177
rs1801177
LPL
14 0.742 0.240 8 19948197 missense variant G/A;C snv 1.4E-02; 2.0E-05 0.010 < 0.001 1 2000 2000
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2001 2010
dbSNP: rs121918393
rs121918393
6 0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs118204060
rs118204060
LPL
9 0.807 0.160 8 19954279 missense variant C/T snv 4.0E-05 1.4E-05 0.030 1.000 3 2002 2007
dbSNP: rs759009903
rs759009903
ACE
1 17 63484413 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs2075291
rs2075291
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.080 1.000 8 2003 2018
dbSNP: rs2293869
rs2293869
RP1
1 8 54626835 missense variant A/T snv 0.34 0.33 0.010 1.000 1 2003 2003
dbSNP: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.020 0.500 2 2004 2012
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.030 1.000 3 2006 2016