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: 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: rs2511989
rs2511989
SERPING1
3 0.882 0.160 11 57610852 intron variant C/T snv 0.39 0.030 < 0.001 3 2010 2015
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: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.010 1.000 1 2014 2014
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: 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: rs13095226
rs13095226
COL8A1
5 0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 0.010 < 0.001 1 2015 2015
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: rs1329428
rs1329428
CFH
9 0.807 0.160 1 196733680 intron variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs1410996
rs1410996
CFH
11 0.807 0.240 1 196727803 intron variant G/A snv 0.46 0.010 1.000 1 2010 2010
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: rs1713985
rs1713985
REST
4 0.882 0.040 4 56920284 intron variant G/T snv 0.92 0.010 < 0.001 1 2012 2012
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: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 < 0.001 1 2013 2013
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: 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: 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: 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: rs429608
rs429608
CYP21A2 ; SKIV2L
4 0.851 0.160 6 31962685 intron variant G/A snv 0.14 0.16 0.010 1.000 1 2014 2014
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: 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: 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: rs868005
rs868005
ELN
1 1.000 7 74030784 intron variant T/C snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs9621532
rs9621532
SYN3
4 0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 0.010 1.000 1 2012 2012
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