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HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase)
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3156
Gene nameGene Name - the full gene name approved by the HGNC.
3-hydroxy-3-methylglutaryl-CoA reductase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
HMGCR
SynonymsGene synonyms aliases
LDLCQ3, LGMDR28, MYPLG
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q13.3
SummarySummary of gene provided in NCBI Entrez Gene.
HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs17244841 A>T Association, drug-response Intron variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT016598 hsa-miR-193b-3p Microarray 20304954
MIRT018888 hsa-miR-335-5p Microarray 18185580
MIRT020381 hsa-miR-29c-3p Sequencing 20371350
MIRT028289 hsa-miR-32-5p Sequencing 20371350
MIRT048980 hsa-miR-92a-3p CLASH 23622248
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
SREBF2 Activation 17448444
SREBF2 Unknown 19288057
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0004420 Function Hydroxymethylglutaryl-CoA reductase (NADPH) activity IBA 21873635
GO:0004420 Function Hydroxymethylglutaryl-CoA reductase (NADPH) activity IDA 21357570
GO:0005515 Function Protein binding IPI 23169578
GO:0005778 Component Peroxisomal membrane IBA 21873635
GO:0005778 Component Peroxisomal membrane IDA 17180682
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P04035
Protein name 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase) (EC 1.1.1.34)
Protein function Catalyzes the conversion of (3S)-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonic acid, the rate-limiting step in the synthesis of cholesterol and other isoprenoids, thus plays a critical role in cellular cholesterol homeostasis (PubMed:21357
PDB 1DQ8 , 1DQ9 , 1DQA , 1HW8 , 1HW9 , 1HWI , 1HWJ , 1HWK , 1HWL , 2Q1L , 2Q6B , 2Q6C , 2R4F , 3BGL , 3CCT , 3CCW , 3CCZ , 3CD0 , 3CD5 , 3CD7 , 3CDA , 3CDB , 8PKN , 8S6B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12349 Sterol-sensing
85 → 235
Sterol-sensing domain of SREBP cleavage-activation
 Family
PF00368 HMG-CoA_red
491 → 871
Hydroxymethylglutaryl-coenzyme A reductase
 Family
Sequence 
MLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICGWNYECPKFEEDVLSS
DIIILTITRCIAILYIYFQFQNLRQLGSKYILGIAGLFTIFSSFVFSTVVIHFLDKELTG
LNEALPFFLLLIDLSRASTLAKFALSSNSQDEVRENIARGMAILGPTFTLDALVECLVIG
VGTMSGVRQLEIMCCFGCMSVLANYFVFMTFFPACVSLVLELSRESREGRPIWQLSHFAR
VLEEEENKPNPVTQRVKMIMSLGLVLVHAHSRWIADPSPQNSTADTSKVSLGLDENVSKR
IEPSVSLWQFYLSKMISMDIEQVITLSLALLLAVKYIFFEQTETESTLSLKNPITSPVVT
QKKVPDNCCRREPMLVRNNQKCDSVEEETGINRERKVEVIKPLVAETDTPNRATFVVGNS
SLLDTSSVLVTQEPEIELPREPRPNEECLQILGNAEKGAKFLSDAEIIQLVNAKHIPAYK
LETLMETHERGVSIRRQLLSKKLSEPSSLQYLPYRDYNYSLVMGACCENVIGYMPIPVGV
AGPLCLDEKEFQVPMATTEGCLVASTNRGCRAIGLGGGASSRVLADGMTRGPVVRLPRAC
DSAEVKAWLETSEGFAVIKEAFDSTSRFARLQKLHTSIAGRNLYIRFQSRSGDAMGMNMI
SKGTEKALSKLHEYFPEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREV
LKTTTEAMIEVNINKNLVGSAMAGSIGGYNAHAANIVTAIYIACGQDAAQNVGSSNCITL
MEASGPTNEDLYISCTMPSIEIGTVGGGTNLLPQQACLQMLGVQGACKDNPGENARQLAR
IVCGTVMAGELSLMAALAAGHLVKSHMIHNRSKINLQDLQGACTKKTA
Sequence length 888
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Terpenoid backbone biosynthesis
Metabolic pathways
AMPK signaling pathway
Bile secretion 		  Cholesterol biosynthesis
PPARA activates gene expression
Activation of gene expression by SREBF (SREBP)
EGR2 and SOX10-mediated initiation of Schwann cell myelination
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autoimmune diseases Autoimmune Diseases rs41285370, rs869025224 23953224
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 23103227
Hypercholesterolemia Hypercholesterolemia, Hypercholesterolemia, Familial rs28942111, rs28942112, rs137852912, 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 8593127, 12477733
Hyperimmunoglobulinemia Hyperimmunoglobulinemia D rs28934897, rs104895317, rs104895295, rs104895304, rs121917790, rs104895319, rs104895334, rs104895300, rs104895301, rs104895373, rs104895322, rs104895323, rs104895324, rs104895360, rs104895368, rs104895306, rs104895369, rs104895370, rs104895382, rs104895307, rs104895297, rs104895363, rs104895298, rs104895299, rs104895311, rs104895332, rs104895335, rs104895364, rs104895303, rs104895366, rs104895339, rs104895315, rs104895316, rs104895321, rs104895352, rs104895305, rs104895308, rs1593015642, rs1593026935, rs1593021917 12477733
Unknown
Disease name Disease term dbSNP ID References
Cardiovascular diseases Cardiovascular Diseases 30595370
Coronary heart disease Coronary heart disease rs9289231, rs281864746 21347282
Deficiency of mevalonate kinase Deficiency of mevalonate kinase 12477733
Kidney failure Kidney Failure, Chronic 19878707

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