Gene: ABCA1 ×
Source: BEFREE ×
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: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.090 0.889 9 2006 2018
dbSNP: rs2230808
rs2230808
ABCA1
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.050 0.600 5 2003 2013
dbSNP: rs2066714
rs2066714
ABCA1
11 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.020 0.500 2 2007 2012
dbSNP: rs146292819
rs146292819
ABCA1
8 0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs1800977
rs1800977
ABCA1 ; LOC105376196
4 0.851 0.240 9 104928169 intron variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs2066715
rs2066715
ABCA1
7 0.807 0.160 9 104825752 missense variant C/T snv 8.2E-02 5.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs2066718
rs2066718
ABCA1
5 0.882 0.120 9 104826974 missense variant C/G;T snv 4.3E-04; 5.4E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs2230805
rs2230805
ABCA1
1 1.000 0.080 9 104861748 synonymous variant C/G;T snv 3.6E-05; 0.30 0.010 1.000 1 2018 2018
dbSNP: rs2234886
rs2234886
ABCA1
1 1.000 0.080 9 104800523 missense variant T/C snv 0.010 < 0.001 1 2003 2003
dbSNP: rs2422493
rs2422493
ABCA1 ; LOC105376196
2 1.000 0.080 9 104928714 intron variant G/A snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs2740483
rs2740483
ABCA1 ; LOC105376196
3 0.882 0.120 9 104928254 intron variant G/C snv 0.75 0.010 1.000 1 2007 2007
dbSNP: rs4149313
rs4149313
ABCA1
9 0.763 0.240 9 104824472 missense variant T/C snv 0.010 1.000 1 2013 2013