CYP1A1 (cytochrome P450 family 1 subfamily A member 1)

Gene

• Entrez ID: 1543
• Gene name: Cytochrome P450 family 1 subfamily A member 1
• Gene symbol: CYP1A1
• Synonyms: AHH, AHRR, CP11, CYP1, CYPIA1, P1-450, P450-C, P450DX
• Chromosome: 15
• Chromosome location: 15q24.1
• Summary: This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This prot

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038448	hsa-miR-296-3p	CLASH	23622248
MIRT497727	hsa-miR-8084	PAR-CLIP	22291592
MIRT497728	hsa-miR-200b-3p	PAR-CLIP	22291592
MIRT497726	hsa-miR-200c-3p	PAR-CLIP	22291592
MIRT497725	hsa-miR-429	PAR-CLIP	22291592
MIRT497724	hsa-miR-452-5p	PAR-CLIP	22291592
MIRT497723	hsa-miR-4676-3p	PAR-CLIP	22291592
MIRT497722	hsa-miR-892c-3p	PAR-CLIP	22291592
MIRT497721	hsa-miR-3120-5p	PAR-CLIP	22291592
MIRT497720	hsa-miR-374c-5p	PAR-CLIP	22291592
MIRT497719	hsa-miR-655-3p	PAR-CLIP	22291592
MIRT497718	hsa-miR-155-5p	PAR-CLIP	22291592
MIRT497716	hsa-miR-6888-3p	PAR-CLIP	22291592
MIRT497717	hsa-miR-4288	PAR-CLIP	22291592
MIRT497715	hsa-miR-632	PAR-CLIP	22291592
MIRT497714	hsa-miR-1231	PAR-CLIP	22291592
MIRT489679	hsa-miR-3664-5p	PAR-CLIP	23592263
MIRT489678	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT489677	hsa-miR-4679	PAR-CLIP	23592263
MIRT489676	hsa-miR-4680-5p	PAR-CLIP	23592263
MIRT489675	hsa-miR-4294	PAR-CLIP	23592263
MIRT489674	hsa-miR-3191-5p	PAR-CLIP	23592263
MIRT489673	hsa-miR-4768-5p	PAR-CLIP	23592263
MIRT489672	hsa-miR-6833-3p	PAR-CLIP	23592263
MIRT489671	hsa-miR-6809-3p	PAR-CLIP	23592263
MIRT497727	hsa-miR-8084	PAR-CLIP	22291592
MIRT497728	hsa-miR-200b-3p	PAR-CLIP	22291592
MIRT497726	hsa-miR-200c-3p	PAR-CLIP	22291592
MIRT497725	hsa-miR-429	PAR-CLIP	22291592
MIRT497724	hsa-miR-452-5p	PAR-CLIP	22291592
MIRT497723	hsa-miR-4676-3p	PAR-CLIP	22291592
MIRT497722	hsa-miR-892c-3p	PAR-CLIP	22291592
MIRT497721	hsa-miR-3120-5p	PAR-CLIP	22291592
MIRT497720	hsa-miR-374c-5p	PAR-CLIP	22291592
MIRT497719	hsa-miR-655-3p	PAR-CLIP	22291592
MIRT497718	hsa-miR-155-5p	PAR-CLIP	22291592
MIRT497716	hsa-miR-6888-3p	PAR-CLIP	22291592
MIRT497717	hsa-miR-4288	PAR-CLIP	22291592
MIRT497715	hsa-miR-632	PAR-CLIP	22291592
MIRT497714	hsa-miR-1231	PAR-CLIP	22291592
MIRT489679	hsa-miR-3664-5p	PAR-CLIP	23592263
MIRT489678	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT489677	hsa-miR-4679	PAR-CLIP	23592263
MIRT489676	hsa-miR-4680-5p	PAR-CLIP	23592263
MIRT489675	hsa-miR-4294	PAR-CLIP	23592263
MIRT489674	hsa-miR-3191-5p	PAR-CLIP	23592263
MIRT489673	hsa-miR-4768-5p	PAR-CLIP	23592263
MIRT489672	hsa-miR-6833-3p	PAR-CLIP	23592263
MIRT489671	hsa-miR-6809-3p	PAR-CLIP	23592263
MIRT920537	hsa-miR-1205	CLIP-seq
MIRT920538	hsa-miR-1286	CLIP-seq
MIRT920539	hsa-miR-3074-5p	CLIP-seq
MIRT920540	hsa-miR-3202	CLIP-seq
MIRT920541	hsa-miR-375	CLIP-seq
MIRT920542	hsa-miR-4257	CLIP-seq
MIRT920543	hsa-miR-4326	CLIP-seq
MIRT920544	hsa-miR-4330	CLIP-seq
MIRT920545	hsa-miR-4436b-3p	CLIP-seq
MIRT920546	hsa-miR-4476	CLIP-seq
MIRT920547	hsa-miR-4520a-3p	CLIP-seq
MIRT920548	hsa-miR-4520b-3p	CLIP-seq
MIRT920549	hsa-miR-4521	CLIP-seq
MIRT920550	hsa-miR-4722-3p	CLIP-seq
MIRT920551	hsa-miR-4722-5p	CLIP-seq
MIRT920552	hsa-miR-4763-5p	CLIP-seq
MIRT1972780	hsa-miR-3120-3p	CLIP-seq
MIRT1972781	hsa-miR-3942-5p	CLIP-seq
MIRT1972782	hsa-miR-4436a	CLIP-seq
MIRT1972783	hsa-miR-4703-5p	CLIP-seq
MIRT1972784	hsa-miR-4749-3p	CLIP-seq
MIRT1972785	hsa-miR-665	CLIP-seq
MIRT2208443	hsa-miR-203	CLIP-seq
MIRT2208444	hsa-miR-3154	CLIP-seq
MIRT2208445	hsa-miR-4310	CLIP-seq
MIRT1972782	hsa-miR-4436a	CLIP-seq
MIRT2208446	hsa-miR-4514	CLIP-seq
MIRT2208447	hsa-miR-4685-5p	CLIP-seq
MIRT2208448	hsa-miR-4688	CLIP-seq
MIRT2208449	hsa-miR-4692	CLIP-seq
MIRT2208450	hsa-miR-4747-5p	CLIP-seq
MIRT1972784	hsa-miR-4749-3p	CLIP-seq
MIRT2208451	hsa-miR-486-3p	CLIP-seq
MIRT2208452	hsa-miR-548ag	CLIP-seq
MIRT2208453	hsa-miR-548ai	CLIP-seq
MIRT1972785	hsa-miR-665	CLIP-seq
MIRT2208454	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AHR	Activation	12213390;9865727
AHR	Repression	17012224
AHR	Unknown	10359656;12376470;15325265;19376845;21357676;24639079;8631128;9698073
ARNT	Activation	22387692
ARNT	Unknown	12376470;19255421;19376845;8631128
BRCA1	Unknown	16567799
ESR1	Repression	15837795
KLF4	Unknown	9651398
NFIC	Repression	10490621
NFKB1	Unknown	19928584
PPARA	Activation	15521013
RARA	Unknown	15325265
RELA	Unknown	19928584
USF1	Repression	9388470
VDR	Unknown	22837390

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0002933	Process	Lipid hydroxylation	IDA	14559847
GO:0004497	Function	Monooxygenase activity	IBA	21873635
GO:0004497	Function	Monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25910212
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006306	Process	DNA methylation	IEA
GO:0006631	Process	Fatty acid metabolic process	IDA	15041462
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006778	Process	Porphyrin-containing compound metabolic process	IEA
GO:0007568	Process	Aging	IEA
GO:0008202	Process	Steroid metabolic process	IDA	14559847
GO:0008210	Process	Estrogen metabolic process	IDA	11555828, 12865317, 14559847
GO:0008283	Process	Cell population proliferation	IEA
GO:0008391	Function	Arachidonic acid monooxygenase activity	IDA	15041462
GO:0009308	Process	Amine metabolic process	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0009615	Process	Response to virus	IEA
GO:0009624	Process	Response to nematode	IEA
GO:0009635	Process	Response to herbicide	IEA
GO:0009692	Process	Ethylene metabolic process	TAS
GO:0009804	Process	Coumarin metabolic process	IEA
GO:0009812	Process	Flavonoid metabolic process	IEA
GO:0010041	Process	Response to iron(III) ion	IEA
GO:0016491	Function	Oxidoreductase activity	IDA	19219744
GO:0016679	Function	Oxidoreductase activity, acting on diphenols and related substances as donors	IEA
GO:0016711	Function	Flavonoid 3'-monooxygenase activity	IEA
GO:0017143	Process	Insecticide metabolic process	IEA
GO:0017144	Process	Drug metabolic process	IDA	19219744
GO:0019216	Process	Regulation of lipid metabolic process	TAS
GO:0019341	Process	Dibenzo-p-dioxin catabolic process	IEA
GO:0019373	Process	Epoxygenase P450 pathway	TAS
GO:0019825	Function	Oxygen binding	TAS	1691986
GO:0019899	Function	Enzyme binding	IEA
GO:0020037	Function	Heme binding	IEA
GO:0030544	Function	Hsp70 protein binding	ISS
GO:0032094	Process	Response to food	IEA
GO:0032451	Function	Demethylase activity	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0035902	Process	Response to immobilization stress	IEA
GO:0042359	Process	Vitamin D metabolic process	IC	15546903
GO:0042493	Process	Response to drug	IEA
GO:0042572	Process	Retinol metabolic process	IDA	10681376
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042759	Process	Long-chain fatty acid biosynthetic process	TAS
GO:0042904	Process	9-cis-retinoic acid biosynthetic process	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0046677	Process	Response to antibiotic	IEA
GO:0046685	Process	Response to arsenic-containing substance	IEA
GO:0048565	Process	Digestive tract development	IEA
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IEA
GO:0051879	Function	Hsp90 protein binding	ISS
GO:0055093	Process	Response to hyperoxia	IEA
GO:0060137	Process	Maternal process involved in parturition	IEA
GO:0070330	Function	Aromatase activity	IEA
GO:0070365	Process	Hepatocyte differentiation	IEA
GO:0070576	Function	Vitamin D 24-hydroxylase activity	IDA	15546903
GO:0070988	Process	Demethylation	IEA
GO:0071280	Process	Cellular response to copper ion	IEA
GO:0071407	Process	Cellular response to organic cyclic compound	IDA	23275542
GO:0097267	Process	Omega-hydroxylase P450 pathway	TAS
GO:0101020	Function	Estrogen 16-alpha-hydroxylase activity	IDA	11555828, 14559847
GO:0101021	Function	Estrogen 2-hydroxylase activity	IDA	11555828, 12865317
GO:0106256	Function	Hydroperoxy icosatetraenoate dehydratase activity	IEA
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IEA

Other IDs

• MIM: 108330
• HGNC: 2595
• e!Ensembl: ENSG00000140465

Protein

• UniProt ID: P04798
• Protein name: Cytochrome P450 1A1 (CYPIA1) (EC 1.14.14.1) (Cytochrome P450 form 6) (Cytochrome P450-C) (Cytochrome P450-P1) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.2.1.152)
• Protein function: A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:10681376, PubMed:11555828, PubMed:12865317, PubMed:14559847, PubMed:15041462, PubMed:158053
• PDB: 4I8V, 6DWM, 6DWN, 6O5Y, 6UDL, 6UDM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	40 → 501	Cytochrome P450	Domain

• Sequence:

  MLFPISMSATEFLLASVIFCLVFWVIRASRPQVPKGLKNPPGPWGWPLIGHMLTLGKNPH
  LALSRMSQQYGDVLQIRIGSTPVVVLSGLDTIRQALVRQGDDFKGRPDLYTFTLISNGQS
  MSFSPDSGPVWAARRRLAQNGLKSFSIASDPASSTSCYLEEHVSKEAEVLISTLQELMAG
  PGHFNPYRYVVVSVTNVICAICFGRRYDHNHQELLSLVNLNNNFGEVVGSGNPADFIPIL
  RYLPNPSLNAFKDLNEKFYSFMQKMVKEHYKTFEKGHIRDITDSLIEHCQEKQLDENANV
  QLSDEKIINIVLDLFGAGFDTVTTAISWSLMYLVMNPRVQRKIQEELDTVIGRSRRPRLS
  DRSHLPYMEAFILETFRHSSFVPFTIPHSTTRDTSLKGFYIPKGRCVFVNQWQINHDQKL
  WVNPSEFLPERFLTPDGAIDKVLSEKVIIFGMGKRKCIGETIARWEVFLFLAILLQRVEF
  SVPLGVKVDMTPIYGLTMKHACCEHFQMQLRS

• Sequence length: 512

Pathways

KEGG:

Steroid hormone biosynthesis
Tryptophan metabolism
Retinol metabolism
Metabolism of xenobiotics by cytochrome P450
Metabolic pathways
Ovarian steroidogenesis
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Lipid and atherosclerosis

Reactome:

PPARA activates gene expression
Xenobiotics
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
Biosynthesis of protectins

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	16792888
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	16792888
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928	19022366
Dermatitis	Contact Dermatitis, Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25724174, 19022366, 11312644
Hypertension	Hypertensive disease	rs13306026, rs13333226	20634294, 22995157
Long qt syndrome	Long QT Syndrome	rs121434386, rs120074177, rs104894252, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074183, rs120074184, rs120074185, rs120074186, rs17215500, rs120074188, rs387906290, rs1800171, rs120074189, rs120074190, rs120074191, rs120074193, rs120074194, rs120074196, rs116840805, rs116840789, rs116840778, rs1008642, rs104893713, rs104893715, rs121909281, rs28937316, rs28937317, rs137854613, rs137854614, rs137854600, rs137854601, rs397514449, rs137854618, rs121918602, rs281865421, rs28933384, rs121912504, rs121912505, rs28928904, rs121912506, rs1554426258, rs121912507, rs121912508, rs9333649, rs28928905, rs121912509, rs121912510, rs121912511, rs121912512, rs1554424772, rs121912516, rs28933093, rs79891110, rs80315385, rs199472944, rs199472942, rs199476324, rs116840787, rs193922365, rs151344631, rs45546039, rs397507556, rs199472758, rs199472759, rs397508068, rs397508069, rs199472760, rs199472762, rs199472763, rs397508070, rs397508071, rs199473471, rs199472765, rs397508072, rs397508075, rs12720458, rs199473411, rs199473410, rs199473663, rs199472767, rs397508077, rs397508078, rs199472771, rs397508082, rs397508083, rs397508085, rs397508087, rs397508090, rs397508091, rs397508093, rs397508096, rs199473479, rs199472790, rs397508097, rs138551008, rs199472795, rs199473480, rs199472800, rs199472804, rs199472805, rs199472807, rs199472806, rs397508099, rs199473483, rs199472814, rs199472815, rs397508103, rs397508104, rs199472678, rs199473448, rs199472679, rs397508110, rs397508111, rs397508112, rs397508113, rs179489, rs397508114, rs199472693, rs139042529, rs199472696, rs199472697, rs397508115, rs199473394, rs199473397, rs397508116, rs397508117, rs199473662, rs397508118, rs397508120, rs199472702, rs199473456, rs199472708, rs199473457, rs199472709, rs199472710, rs199472712, rs199472713, rs199472716, rs199472719, rs199472720, rs199472722, rs199472721, rs397508125, rs199473460, rs199472726, rs199472727, rs397508126, rs397508127, rs199472730, rs199473462, rs397508129, rs199473466, rs397508130, rs199472743, rs199472745, rs199472748, rs74462309, rs104894255, rs199472749, rs199472751, rs199473470, rs199472754, rs199472755, rs199472756, rs397508134, rs199472794, rs199472801, rs199472687, rs199473661, rs199473398, rs199472701, rs199472823, rs199472705, rs199472706, rs199473459, rs199472718, rs199472734, rs199472740, rs199472750, rs199472753, rs199472895, rs199472836, rs199472911, rs199472912, rs199472916, rs199472918, rs199472919, rs199472845, rs199472921, rs199472922, rs199472926, rs199473423, rs199473413, rs199473426, rs199473428, rs199472934, rs199472936, rs199473522, rs199472939, rs199472941, rs199473524, rs199472945, rs199472946, rs199472947, rs199472948, rs199472950, rs199472953, rs199472954, rs199473039, rs199472957, rs41307295, rs199472961, rs199472968, rs199472970, rs199472971, rs199472979, rs199473665, rs199473419, rs199473420, rs199473421, rs199472986, rs199472990, rs199472995, rs199472999, rs199473538, rs199473005, rs199473004, rs199473018, rs199472859, rs199472862, rs199472830, rs199472884, rs199473108, rs72549410, rs199473584, rs199473225, rs199473623, rs199473631, rs199473311, rs199473072, rs386352319, rs398124647, rs398124648, rs398124650, rs398124649, rs199473354, rs587777437, rs587782933, rs189014161, rs730880374, rs730880116, rs730880043, rs730882252, rs199744595, rs730882253, rs730882254, rs786204101, rs786204395, rs786204839, rs786205745, rs786205748, rs786205753, rs794728721, rs794728740, rs794728783, rs749697698, rs397514251, rs1553694247, rs794728849, rs794728473, rs794728470, rs794728466, rs794728469, rs794728468, rs794728467, rs794728403, rs794728504, rs794728401, rs794728464, rs748706373, rs794728459, rs794728462, rs794728503, rs794728458, rs794728399, rs794728456, rs794728455, rs794728502, rs794728449, rs794728446, rs1554425149, rs794728391, rs794728382, rs794728381, rs1137617, rs794728488, rs794728380, rs794728487, rs794728442, rs794728377, rs794728483, rs794728440, rs794728481, rs794728438, rs201268831, rs794728498, rs794728366, rs794728478, rs794728365, rs770047651, rs794728364, rs794728431, rs794728429, rs794728427, rs794728422, rs794728425, rs794728496, rs794728423, rs794728420, rs761863251, rs794728489, rs754921704, rs794728508, rs794728409, rs794728506, rs794728475, rs794728406, rs794728416, rs794728563, rs1554958092, rs397508109, rs794728549, rs794728565, rs794728566, rs762814879, rs794728547, rs794728580, rs794728569, rs775479779, rs794728517, rs794728581, rs794728523, rs794728571, rs794728527, rs775537394, rs794728558, rs794728561, rs794728531, rs794728535, rs794728562, rs794728576, rs794728537, rs794728540, rs779760381, rs796052171, rs755287627, rs796052197, rs796052198, rs796052196, rs796052199, rs796052200, rs796052166, rs878854347, rs794728568, rs878854349, rs878854350, rs878854348, rs863224478, rs863225288, rs864622309, rs864622174, rs773724817, rs199473441, rs199472951, rs869025448, rs869025447, rs878853771, rs199473412, rs763462603, rs886037906, rs886039183, rs886039045, rs530612385, rs886039385, rs750349088, rs199472893, rs773204795, rs1057518151, rs1057517743, rs1057517742, rs1057517711, rs1057520558, rs1057520598, rs1057520623, rs746877365, rs1060500662, rs1060500661, rs1060500670, rs1554425527, rs1060500621, rs199956744, rs1060500628, rs765169367, rs1060500626, rs1060500627, rs1060500623, rs1060500629, rs397508105, rs786205771, rs1060502608, rs1060502607, rs756159737, rs1554424044, rs1064793434, rs1064794793, rs1064793832, rs794728477, rs199472844, rs1554958132, rs1064795333, rs1064793159, rs1085307620, rs1554425498, rs1554425569, rs1131691762, rs1131692183, rs1131692327, rs199473442, rs1135401944, rs886039043, rs1555843898, rs199473310, rs1554423863, rs1554920580, rs1435990592, rs1554892994, rs1554894448, rs1554424079, rs1554426219, rs1554427317, rs1554428173, rs1554424062, rs1554425320, rs1554425486, rs1554424083, rs1554425226, rs1554425284, rs1554893228, rs1555814427, rs1553431702, rs1554424688, rs1553698563, rs1554424063, rs1554430908, rs1554423871, rs1554424070, rs1554424091, rs1554424390, rs1554424620, rs1385959174, rs1554424849, rs1554426244, rs1554427596, rs1554430850, rs1554893091, rs199472833, rs1554894445, rs1554424138, rs1554427931, rs1554958043, rs1554428170, rs1554427943, rs1554431441, rs1554424671, rs199473517, rs1554895166, rs1555843953, rs758346045, rs1244688796, rs779124360, rs1564821090, rs1563152963, rs1563156868, rs1325525794, rs199472924, rs1563193513, rs1558693760, rs761585108, rs1563156461, rs1564067737, rs199473430, rs1563161565, rs1563169296, rs1564820729, rs397508133, rs199472770, rs1564886323, rs1564820372, rs1564820786, rs1564824264, rs1564886349, rs1563148264, rs749211387, rs1563160541, rs1564825414, rs1568835906, rs1563161538, rs750835733, rs1568469857, rs1569139160, rs199473259, rs1584843033, rs1590081467, rs1584885912, rs1573214371, rs1584841841, rs1584842021, rs1584845263, rs1584846819, rs1584850710, rs1584856544, rs1584883087, rs1584883377, rs1584883517, rs1589884185, rs1589957719, rs1589957756, rs1589957233, rs1584852351, rs1590081328, rs794728578, rs1589931156, rs1584843078, rs1584847173, rs1584855956, rs552508881, rs1584852174, rs1589968661, rs1599759554, rs1599759598, rs1573214163, rs1584863723, rs1589957697, rs1800946921, rs1800958758, rs1801008727, rs1801183828, rs1801406108, rs1801444435, rs1801462423, rs1801935667, rs1848344878, rs1848346228, rs1848360153, rs1554894743, rs1848613641, rs199472974, rs1801941580, rs775362401, rs1846542419, rs1848316236, rs1848322089, rs767921776	26988683
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	16792888
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	11275366, 17919073

Unknown
Disease name	Disease term	dbSNP ID	References
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		16792888
Hamartoma	Hamartoma	rs140172891, rs143083812, rs34545616, rs587778688, rs2228617	21998131
Kidney neoplasm	Kidney Neoplasm		15003126
Kidney cancer	Malignant neoplasm of kidney		15003126
Liver carcinoma	Liver carcinoma		15341023
Miscarriage	Miscarriage		19022366, 26593447
Prostatic neoplasms	Prostatic Neoplasms		17919073, 11275366
Sinus tachycardia	Sinus Tachycardia		26988683
Vascular diseases	Peripheral Vascular Diseases		19022366