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: rs4823613
rs4823613
PPARA
1 1.000 0.040 22 46202410 intron variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs6066394
rs6066394
NCOA3
2 1.000 0.040 20 47581409 intron variant C/T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
8 0.790 0.120 19 11113680 missense variant G/T snv 0.100 1.000 10 2004 2020
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.020 0.500 2 1993 2001
dbSNP: rs1047731829
rs1047731829
LDLR
1 1.000 0.040 19 11120186 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 < 0.001 1 1993 1993
dbSNP: rs1279368649
rs1279368649
LDLR
1 1.000 0.040 19 11120146 missense variant C/T snv 2.1E-05 0.010 1.000 1 1996 1996
dbSNP: rs1308646934
rs1308646934
LDLR
1 1.000 0.040 19 11129527 missense variant C/T snv 0.010 1.000 1 1996 1996
dbSNP: rs138947766
rs138947766
LDLR
6 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs2228671
rs2228671
LDLR
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs267606661
rs267606661
APOE
10 0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05 0.010 < 0.001 1 1993 1993
dbSNP: rs28942084
rs28942084
LDLR
11 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs373371572
rs373371572
LDLR
6 0.851 0.080 19 11116936 missense variant C/T snv 4.0E-06 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs544453230
rs544453230
LDLR
6 0.882 0.080 19 11110714 missense variant G/A;C snv 2.8E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs545532525
rs545532525
LDLR
5 0.851 0.200 19 11110753 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs573658040
rs573658040
APOE
9 0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06 0.010 1.000 1 2000 2000
dbSNP: rs730882082
rs730882082
LDLR
5 0.882 0.080 19 11105315 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs730882106
rs730882106
LDLR ; MIR6886
5 0.882 0.080 19 11113752 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs747507019
rs747507019
LDLR
3 0.882 0.080 19 11110690 missense variant C/T snv 6.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs749780672
rs749780672
LDLR ; MIR6886
2 0.925 0.080 19 11113426 missense variant C/A;G snv 1.6E-05 0.010 1.000 1 1997 1997
dbSNP: rs768925824
rs768925824
LDLR
4 0.925 0.040 19 11110693 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs770937716
rs770937716
LDLR
1 1.000 0.040 19 11107405 missense variant G/C snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs879254449
rs879254449
LDLR
3 0.882 0.080 19 11102723 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs879254509
rs879254509
LDLR
3 0.882 0.080 19 11105295 stop gained C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs879254597
rs879254597
LDLR
4 0.851 0.120 19 11105528 stop gained G/A;T snv 0.010 1.000 1 2004 2004