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: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.020 1.000 2 2014 2014
dbSNP: rs2066714
rs2066714
ABCA1
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.010 1.000 1 2006 2006
dbSNP: rs4149313
rs4149313
ABCA1
9 0.763 0.240 9 104824472 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2004 2004
dbSNP: rs501192
rs501192
CASP1
3 0.925 0.200 11 105029658 splice region variant C/T snv 0.17 0.15 0.010 1.000 1 2010 2010
dbSNP: rs1319501
rs1319501
NAMPT
4 0.882 0.120 7 106285307 intron variant C/A;T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs2569512
rs2569512
ILF3
5 0.925 0.080 19 10679486 intron variant T/C snv 0.76 0.740 1.000 4 2011 2011
dbSNP: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.020 1.000 2 2007 2010
dbSNP: rs7528419
rs7528419
CELSR2
13 0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.810 1.000 2 2009 2012
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.060 0.833 6 2008 2015
dbSNP: rs536289169
rs536289169
GSTM1 ; GSTM2
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2012 2012
dbSNP: rs1376251
rs1376251
PRH1 ; PRR4 ; TAS2R14 ; TAS2R50 ; PRH1-PRR4 ; PRH1-TAS2R14
3 0.882 0.160 12 10986253 missense variant C/T snv 0.40 0.28 0.010 1.000 1 2011 2011
dbSNP: rs9925481
rs9925481
CLEC16A
5 0.882 0.160 16 11003622 intron variant C/G;T snv 0.730 1.000 4 2009 2011
dbSNP: rs3742207
rs3742207
COL4A1
3 0.925 0.120 13 110166251 missense variant T/A;G snv 2.8E-05; 0.30 0.010 1.000 1 2008 2008
dbSNP: rs3809346
rs3809346
COL4A1 ; COL4A2
2 1.000 0.080 13 110308596 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs55940034
rs55940034
COL4A2
1 1.000 0.080 13 110390962 intron variant A/G snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.810 0.500 2 2009 2014
dbSNP: rs55791371
rs55791371
SMARCA4
3 0.925 0.080 19 11077477 intron variant A/C snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs6511720
rs6511720
LDLR
15 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.010 1.000 1 2009 2009
dbSNP: rs776421777
rs776421777
LDLR
5 0.882 0.160 19 11100246 stop gained G/A;T snv 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs752596535
rs752596535
LDLR
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.020 1.000 2 2003 2004
dbSNP: rs1131692208
rs1131692208
LDLR ; MIR6886
4 0.925 0.160 19 11113603 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs544456198
rs544456198
LDLR
9 0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05 0.020 1.000 2 2003 2004
dbSNP: rs1433099
rs1433099
LDLR ; SPC24
3 0.882 0.160 19 11131982 3 prime UTR variant T/A;C snv 0.010 1.000 1 2009 2009