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: rs3764261
rs3764261 		26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.040 1.000 4 2013 2018
dbSNP: rs12678919
rs12678919 		10 0.882 0.080 8 19986711 intergenic variant A/G snv 1.0E-01 0.020 < 0.001 2 2013 2015
dbSNP: rs1883025
rs1883025
ABCA1
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.010 < 0.001 1 2014 2014
dbSNP: rs225396
rs225396
ABCG1
2 0.925 0.040 21 42267244 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
9 0.776 0.160 21 42218908 intron variant G/A snv 0.14 0.030 1.000 3 2014 2018
dbSNP: rs1532085
rs1532085
ALDH1A2
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs493258
rs493258
ALDH1A2
3 0.925 0.040 15 58395681 intron variant T/C snv 0.50 0.010 < 0.001 1 2013 2013
dbSNP: rs11775442
rs11775442
ANGPT2 ; MCPH1
2 0.925 0.040 8 6538837 intron variant A/G snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs13269021
rs13269021
ANGPT2 ; MCPH1
2 0.925 0.040 8 6539242 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4455855
rs4455855
ANGPT2 ; MCPH1
2 0.925 0.040 8 6539909 intron variant A/T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.100 0.923 26 2007 2019
dbSNP: rs3750847
rs3750847
ARMS2 ; LOC105378525
4 0.882 0.040 10 122455905 intron variant C/T snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs138195505
rs138195505
C2 ; CYP21A2
2 0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs547154
rs547154
C2 ; CYP21A2 ; C2-AS1
3 0.882 0.160 6 31943161 intron variant G/T snv 0.12 0.050 1.000 5 2009 2015
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs17030
rs17030
C3
2 0.925 0.080 19 6677978 synonymous variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs344555
rs344555
C3
2 0.925 0.040 19 6679349 intron variant T/C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs6982567
rs6982567
C8orf37-AS1
3 0.882 0.040 8 95738053 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs3173798
rs3173798
CD36
2 0.925 0.040 7 80656534 splice region variant T/C snv 0.14 0.13 0.010 1.000 1 2012 2012
dbSNP: rs3173800
rs3173800
CD36
2 0.925 0.040 7 80660605 intron variant A/T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs2303790
rs2303790
CETP
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.010 1.000 1 2013 2013
dbSNP: rs4151667
rs4151667
CFB ; CYP21A2
9 0.790 0.320 6 31946247 missense variant T/A snv 3.9E-02 3.4E-02 0.020 1.000 2 2009 2014
dbSNP: rs541862
rs541862
CFB ; CYP21A2
3 0.882 0.160 6 31949174 non coding transcript exon variant T/C snv 0.12 0.010 1.000 1 2012 2012