APOC3 (apolipoprotein C3)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
345 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Apolipoprotein C3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
APOC3 |
SynonymsGene synonyms aliases
|
APOCIII |
ChromosomeChromosome number
|
11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11q23.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017] |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs76353203 |
C>G,T |
Pathogenic, protective |
Missense variant, coding sequence variant, stop gained |
rs121918381 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs121918382 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs138326449 |
G>A |
Protective, pathogenic |
Splice donor variant |
rs140621530 |
G>T |
Protective, likely-benign, pathogenic |
Splice donor variant |
rs147210663 |
G>A,T |
Protective, pathogenic |
Missense variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001523 |
Process |
Retinoid metabolic process |
TAS |
|
GO:0005515 |
Function |
Protein binding |
IPI |
32296183 |
GO:0005543 |
Function |
Phospholipid binding |
IBA |
21873635 |
GO:0005543 |
Function |
Phospholipid binding |
IDA |
4066713, 11060345 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005615 |
Component |
Extracellular space |
IDA |
11060345 |
GO:0005769 |
Component |
Early endosome |
TAS |
|
GO:0006641 |
Process |
Triglyceride metabolic process |
IMP |
17142127 |
GO:0007186 |
Process |
G protein-coupled receptor signaling pathway |
IDA |
16443932 |
GO:0010897 |
Process |
Negative regulation of triglyceride catabolic process |
IBA |
21873635 |
GO:0010897 |
Process |
Negative regulation of triglyceride catabolic process |
IDA |
3973011, 18635818 |
GO:0010903 |
Process |
Negative regulation of very-low-density lipoprotein particle remodeling |
IC |
18635818 |
GO:0010903 |
Process |
Negative regulation of very-low-density lipoprotein particle remodeling |
IDA |
3973011 |
GO:0010916 |
Process |
Negative regulation of very-low-density lipoprotein particle clearance |
IBA |
21873635 |
GO:0010916 |
Process |
Negative regulation of very-low-density lipoprotein particle clearance |
IDA |
1917954 |
GO:0010987 |
Process |
Negative regulation of high-density lipoprotein particle clearance |
IBA |
21873635 |
GO:0010987 |
Process |
Negative regulation of high-density lipoprotein particle clearance |
IMP |
15778093 |
GO:0010989 |
Process |
Negative regulation of low-density lipoprotein particle clearance |
IBA |
21873635 |
GO:0010989 |
Process |
Negative regulation of low-density lipoprotein particle clearance |
IMP |
15778093 |
GO:0015485 |
Function |
Cholesterol binding |
IC |
11162594 |
GO:0019433 |
Process |
Triglyceride catabolic process |
IDA |
11060345 |
GO:0030234 |
Function |
Enzyme regulator activity |
IDA |
11060345 |
GO:0032489 |
Process |
Regulation of Cdc42 protein signal transduction |
IDA |
16443932 |
GO:0033344 |
Process |
Cholesterol efflux |
IDA |
11162594, 16443932 |
GO:0033700 |
Process |
Phospholipid efflux |
IDA |
11162594 |
GO:0034361 |
Component |
Very-low-density lipoprotein particle |
IBA |
21873635 |
GO:0034361 |
Component |
Very-low-density lipoprotein particle |
IDA |
3973011, 16935699, 17154273 |
GO:0034363 |
Component |
Intermediate-density lipoprotein particle |
IBA |
21873635 |
GO:0034363 |
Component |
Intermediate-density lipoprotein particle |
IDA |
17336988 |
GO:0034366 |
Component |
Spherical high-density lipoprotein particle |
IBA |
21873635 |
GO:0034366 |
Component |
Spherical high-density lipoprotein particle |
IDA |
17438339 |
GO:0034371 |
Process |
Chylomicron remodeling |
TAS |
|
GO:0034375 |
Process |
High-density lipoprotein particle remodeling |
IMP |
17438339 |
GO:0034375 |
Process |
High-density lipoprotein particle remodeling |
TAS |
|
GO:0034378 |
Process |
Chylomicron assembly |
TAS |
|
GO:0034379 |
Process |
Very-low-density lipoprotein particle assembly |
TAS |
18399797 |
GO:0034382 |
Process |
Chylomicron remnant clearance |
IDA |
4020294 |
GO:0042157 |
Process |
Lipoprotein metabolic process |
IEA |
|
GO:0042627 |
Component |
Chylomicron |
IBA |
21873635 |
GO:0042627 |
Component |
Chylomicron |
IDA |
8245722 |
GO:0042632 |
Process |
Cholesterol homeostasis |
IBA |
21873635 |
GO:0042632 |
Process |
Cholesterol homeostasis |
IMP |
18767813 |
GO:0043691 |
Process |
Reverse cholesterol transport |
IC |
17438339 |
GO:0045717 |
Process |
Negative regulation of fatty acid biosynthetic process |
IDA |
11060345, 18635818 |
GO:0045833 |
Process |
Negative regulation of lipid metabolic process |
IDA |
182536 |
GO:0048261 |
Process |
Negative regulation of receptor-mediated endocytosis |
IDA |
1917954 |
GO:0050995 |
Process |
Negative regulation of lipid catabolic process |
IDA |
15576844 |
GO:0051005 |
Process |
Negative regulation of lipoprotein lipase activity |
IBA |
21873635 |
GO:0051005 |
Process |
Negative regulation of lipoprotein lipase activity |
IDA |
3973011, 11060345, 18635818 |
GO:0055102 |
Function |
Lipase inhibitor activity |
IBA |
21873635 |
GO:0055102 |
Function |
Lipase inhibitor activity |
IDA |
182536, 3973011, 15576844, 18635818 |
GO:0060621 |
Process |
Negative regulation of cholesterol import |
IMP |
15778093 |
GO:0062023 |
Component |
Collagen-containing extracellular matrix |
HDA |
27068509, 27559042 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
23533145 |
GO:0070328 |
Process |
Triglyceride homeostasis |
IBA |
21873635 |
GO:0070328 |
Process |
Triglyceride homeostasis |
IMP |
18767813 |
GO:0070653 |
Function |
High-density lipoprotein particle receptor binding |
IBA |
21873635 |
GO:0070653 |
Function |
High-density lipoprotein particle receptor binding |
IPI |
9254056 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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|
Protein
|
UniProt ID |
P02656 |
Protein name |
Apolipoprotein C-III (Apo-CIII) (ApoC-III) (Apolipoprotein C3) |
Protein function |
Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma (PubMed:18201179, PubMed:22510806). Plays a multifaceted role in triglyceride homeostasis (PubMed:18201179, PubMed:22510806). Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride-rich lipoproteins (TRLs) (PubMed:18201179, PubMed:22510806). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors (PubMed:18201179, PubMed:22510806). Formed of several curved helices connected via semiflexible hinges, so that it can wrap tightly around the curved micelle surface and easily adapt to the different diameters of its natural binding partners (PubMed:18408013). |
PDB |
2JQ3
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF05778 |
Apo-CIII |
22 → 90 |
Apolipoprotein CIII (Apo-CIII) |
Family |
|
Sequence |
|
Sequence length |
99 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Hyperlipoproteinemia |
Hyperlipoproteinemias, Hyperlipoproteinemia Type IIa, Hyperlipoproteinemia Type IIb |
rs118204056, rs-1, rs118204057, rs118204058, rs118204059, rs1563572716, rs118204060, rs118204067, rs118204062, rs118204074, rs118204063, rs118204064, rs1563569634, rs118204065, rs118204066, rs1563575252, rs118204068, rs118204069, rs118204070, rs766134215, rs118204071, rs118204072, rs118204073, rs118204075, rs118204076, rs118204077, rs118204078, rs118204079, rs118204080, rs118204081, rs118204082, rs121917821, rs121918393, rs397514253, rs397514254, rs121918394, rs2122132718, rs121918396, rs121918397, rs387906567, rs587777637, rs587777638, rs587777639, rs587777640, rs587777641, rs587777642, rs587777643, rs886037774, rs201079485, rs1554517725, rs371282890, rs35414700 |
2022742, 16030523 |
Hyperlipidemia |
Hyperlipidemia |
rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs3737787, rs2073658, rs1566946168, rs1064797075 |
|
Hypercholesterolemia |
Hypercholesterolemia, Hypercholesterolemia, Familial |
rs28942111, rs28942112, rs137852912, rs-1, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs751141, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255 |
16030523 |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
24097064 |
Amyloidosis |
Amyloidosis |
rs63750567, rs63750560, rs387906821, rs387906822, rs387906823, rs1561123748, rs140352180, rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101 |
26790392 |
Lung cancer |
Malignant neoplasm of lung |
rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 |
19180532 |
Hyperalphalipoproteinemia |
Cholesteryl Ester Transfer Protein Deficiency, Apolipoprotein C-III Deficiency |
rs5742907, rs1567476573, rs121918381, rs121918382 |
2022742 |
Hypobetalipoproteinemia |
NON RARE IN EUROPE: Familial hypobetalipoproteinemia |
rs281865425, rs397514255, rs121918383, rs121918384, rs121918385, rs-1, rs121918386, rs387906569, rs397514256, rs121918387, rs121918389, rs121918390, rs587776852, rs1572800245, rs606231236, rs797045253, rs143301836, rs1057518647, rs1553382678, rs756209187, rs759934326, rs1553383898, rs1553384177, rs1553384441, rs1553385404 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Celiac disease |
Celiac Disease |
rs2305764, rs35218876 |
30097691 |
Cardiovascular diseases |
Cardiovascular Diseases |
|
16544732 |
Cholesterol-ester transfer protein deficiency |
Cholesterol-ester transfer protein deficiency |
|
|
Coronary arteriosclerosis |
Coronary Arteriosclerosis |
|
24097064 |
Hypotriglyceridemia |
Hypotriglyceridemia |
|
|
Lung neoplasms |
Lung Neoplasms |
|
19180532 |
Non-alcoholic fatty liver disease |
NON RARE IN EUROPE: Non-alcoholic fatty liver disease |
|
|
|
|
|