Gene: ABCA1 ×
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: rs9282541
rs9282541
ABCA1
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.050 1.000 5 2008 2017
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.030 0.667 3 2015 2018
dbSNP: rs146292819
rs146292819
ABCA1
9 0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04 0.010 1.000 1 2012 2012
dbSNP: rs1800977
rs1800977
ABCA1 ; LOC105376196
5 0.851 0.240 9 104928169 intron variant G/A;C snv 0.010 1.000 1 2018 2018
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 2008 2008
dbSNP: rs2230808
rs2230808
ABCA1
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2008 2008
dbSNP: rs4149263
rs4149263
ABCA1
2 0.925 0.080 9 104915008 intron variant A/G snv 0.18 0.010 1.000 1 2009 2009