ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2230808
rs2230808
0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2472386
rs2472386
1.000 0.040 9 104839260 intron variant G/A snv 0.47
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4149339
rs4149339
1.000 0.040 9 104782875 3 prime UTR variant G/A snv 0.32
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4743763
rs4743763
1.000 0.040 9 104830901 intron variant A/C;T snv 0.36
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9282541
rs9282541
0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011