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: rs369149111
rs369149111
HTRA1 ; LOC105378525
1 1.000 10 122461711 missense variant C/T snv 2.1E-02 9.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs77466370
rs77466370
FGD6
1 1.000 12 95210298 missense variant T/C snv 2.6E-03 8.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs868005
rs868005
ELN
1 1.000 7 74030784 intron variant T/C snv 0.30 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: 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: rs754100400
rs754100400
IGFN1
2 0.925 0.040 1 201211089 missense variant A/G snv 7.1E-06 4.6E-05 0.010 1.000 1 2018 2018
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: rs2301995
rs2301995
ELN
3 0.882 0.160 7 74037810 non coding transcript exon variant G/A snv 0.11 0.020 0.500 2 2011 2011
dbSNP: rs4711751
rs4711751
LOC107986598
3 0.882 0.040 6 43860845 intergenic variant T/C snv 0.37 0.020 0.500 2 2014 2015
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2070746
rs2070746
FPR1
3 0.882 0.040 19 51746449 synonymous variant G/T snv 0.34 0.30 0.010 1.000 1 2014 2014
dbSNP: rs2285714
rs2285714
PLA2G12A
3 0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2014 2014
dbSNP: rs3793917
rs3793917
HTRA1 ; LOC105378525
3 0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23 0.010 1.000 1 2010 2010
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: 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
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: rs78488639
rs78488639
FPR1
3 0.882 0.160 19 51746706 missense variant G/A;T snv 1.2E-05; 8.6E-03 0.010 1.000 1 2014 2014