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: rs1800978
rs1800978
ABCA1
6 1.000 0.040 9 104903697 5 prime UTR variant C/A;G;T snv 5.4E-06; 0.14 0.700 1.000 1 2018 2018
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.100 1.000 11 2003 2019
dbSNP: rs4149313
rs4149313
ABCA1
9 0.763 0.240 9 104824472 missense variant T/C snv 0.030 1.000 3 2013 2019
dbSNP: rs9282541
rs9282541
ABCA1
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.020 1.000 2 2012 2019
dbSNP: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2014 2014
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 2019 2019
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 2003 2003
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 2003 2003
dbSNP: rs2472386
rs2472386
ABCA1
3 1.000 0.040 9 104839260 intron variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs4149339
rs4149339
ABCA1
2 1.000 0.040 9 104782875 3 prime UTR variant G/A snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs4743763
rs4743763
ABCA1
2 1.000 0.040 9 104830901 intron variant A/C;T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs532997003
rs532997003
ABCA1
3 0.882 0.040 9 104840464 missense variant T/C snv 2.0E-05 0.010 1.000 1 2005 2005