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: rs2853578
rs2853578
1.000 0.120 9 104831027 missense variant T/A;C snv 4.0E-06 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 1 2008 2008
dbSNP: rs137854494
rs137854494
1.000 0.120 9 104806276 missense variant A/G snv 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs137854495
rs137854495
1.000 0.120 9 104822514 missense variant G/A snv 1.2E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs137854497
rs137854497
1.000 0.120 9 104804668 missense variant G/A snv 4.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs137854500
rs137854500
1.000 0.120 9 104814154 missense variant C/T snv 2.4E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs137854501
rs137854501
1.000 0.120 9 104786940 missense variant G/A snv 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs28937313
rs28937313
0.882 0.160 9 104822520 missense variant T/C snv 8.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs28937314
rs28937314
1.000 0.120 9 104822521 missense variant T/C;G snv
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs137854496
rs137854496
1.000 0.120 9 104831048 missense variant C/A;G snv 5.6E-05; 4.0E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.720 1.000 22 1999 2013
dbSNP: rs137854498
rs137854498
1.000 0.120 9 104798504 missense variant G/A;T snv 8.0E-06; 8.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 20 1999 2013
dbSNP: rs141021096
rs141021096
1.000 0.120 9 104819690 missense variant G/T snv 8.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 2004 2004
dbSNP: rs146292819
rs146292819
0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 20 1999 2013
dbSNP: rs1055285452
rs1055285452
1.000 0.120 9 104793255 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1322998567
rs1322998567
1.000 0.120 9 104825707 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137854502
rs137854502
1.000 0.120 9 104831098 stop gained G/T snv
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554714092
rs1554714092
1.000 0.120 9 104822599 frameshift variant G/- delins
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs2853574
rs2853574
1.000 0.120 9 104831058 missense variant G/A snv 2.4E-05 4.3E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387906413
rs387906413
1.000 0.120 9 104830993 frameshift variant C/- del
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387906414
rs387906414
1.000 0.120 9 104818781 frameshift variant AG/- delins 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs564764153
rs564764153
1.000 0.120 9 104785453 missense variant C/G snv 1.5E-04 1.8E-04
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs745593394
rs745593394
1.000 0.120 9 104819625 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs758100110
rs758100110
0.925 0.120 9 104845527 missense variant C/T snv 4.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs796051872
rs796051872
1.000 0.120 9 104816142 splice donor variant C/G snv
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs796051873
rs796051873
1.000 0.120 9 104831740 stop gained AGAACTTCCTCTCA/GTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATT;GTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTCCTGCCACCACGCCCG delins
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs374404992
rs374404992
1.000 0.120 9 104840489 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2003 2010