PON1 (paraoxonase 1)

Gene

• Entrez ID: 5444
• Gene name: Paraoxonase 1
• Gene symbol: PON1
• Synonyms (NCBI Gene): ESA, MVCD5, PON
• Disease Acronyms (UniProt): MVCD5
• Chromosome: 7
• Chromosome location: 7q21.3
• Summary: This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL)

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs662	T>A,C,G	Association, risk-factor	Missense variant, coding sequence variant
rs854560	A>C,G,N,T	Association, risk-factor	Missense variant, coding sequence variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007325	hsa-miR-616-3p	Luciferase reporter assay	23497787
MIRT007325	hsa-miR-616-3p	Luciferase reporter assay	23497787
MIRT540919	hsa-miR-4797-5p	PAR-CLIP	21572407
MIRT540918	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT540916	hsa-miR-5586-3p	PAR-CLIP	21572407
MIRT540917	hsa-miR-759	PAR-CLIP	21572407
MIRT540915	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540914	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT540913	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540912	hsa-miR-1285-3p	PAR-CLIP	21572407
MIRT540911	hsa-miR-3187-5p	PAR-CLIP	21572407
MIRT540909	hsa-miR-5189-5p	PAR-CLIP	21572407
MIRT540910	hsa-miR-612	PAR-CLIP	21572407
MIRT540908	hsa-miR-6860	PAR-CLIP	21572407
MIRT540907	hsa-miR-5186	PAR-CLIP	21572407
MIRT540906	hsa-miR-661	PAR-CLIP	21572407
MIRT540905	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540904	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540903	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT540919	hsa-miR-4797-5p	PAR-CLIP	21572407
MIRT540918	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT540916	hsa-miR-5586-3p	PAR-CLIP	21572407
MIRT540917	hsa-miR-759	PAR-CLIP	21572407
MIRT540915	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540914	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT540913	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540912	hsa-miR-1285-3p	PAR-CLIP	21572407
MIRT540911	hsa-miR-3187-5p	PAR-CLIP	21572407
MIRT540909	hsa-miR-5189-5p	PAR-CLIP	21572407
MIRT540910	hsa-miR-612	PAR-CLIP	21572407
MIRT540908	hsa-miR-6860	PAR-CLIP	21572407
MIRT540907	hsa-miR-5186	PAR-CLIP	21572407
MIRT540906	hsa-miR-661	PAR-CLIP	21572407
MIRT540905	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540904	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540903	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT540912	hsa-miR-1285-3p	PAR-CLIP	27292025
MIRT540912	hsa-miR-1285-3p	PAR-CLIP	27292025
MIRT540905	hsa-miR-196a-3p	PAR-CLIP	27292025
MIRT540905	hsa-miR-196a-3p	PAR-CLIP	27292025
MIRT540911	hsa-miR-3187-5p	PAR-CLIP	27292025
MIRT540911	hsa-miR-3187-5p	PAR-CLIP	27292025
MIRT540919	hsa-miR-4797-5p	PAR-CLIP	27292025
MIRT540919	hsa-miR-4797-5p	PAR-CLIP	27292025
MIRT540918	hsa-miR-508-5p	PAR-CLIP	27292025
MIRT540918	hsa-miR-508-5p	PAR-CLIP	27292025
MIRT540907	hsa-miR-5186	PAR-CLIP	27292025
MIRT540907	hsa-miR-5186	PAR-CLIP	27292025
MIRT540909	hsa-miR-5189-5p	PAR-CLIP	27292025
MIRT540909	hsa-miR-5189-5p	PAR-CLIP	27292025
MIRT540916	hsa-miR-5586-3p	PAR-CLIP	27292025
MIRT540916	hsa-miR-5586-3p	PAR-CLIP	27292025
MIRT540910	hsa-miR-612	PAR-CLIP	27292025
MIRT540910	hsa-miR-612	PAR-CLIP	27292025
MIRT540904	hsa-miR-6512-3p	PAR-CLIP	27292025
MIRT540904	hsa-miR-6512-3p	PAR-CLIP	27292025
MIRT540906	hsa-miR-661	PAR-CLIP	27292025
MIRT540906	hsa-miR-661	PAR-CLIP	27292025
MIRT540903	hsa-miR-6720-5p	PAR-CLIP	27292025
MIRT540903	hsa-miR-6720-5p	PAR-CLIP	27292025
MIRT540915	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT540915	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT540908	hsa-miR-6860	PAR-CLIP	27292025
MIRT540908	hsa-miR-6860	PAR-CLIP	27292025
MIRT540917	hsa-miR-759	PAR-CLIP	27292025
MIRT540917	hsa-miR-759	PAR-CLIP	27292025
MIRT540913	hsa-miR-766-3p	PAR-CLIP	27292025
MIRT540913	hsa-miR-766-3p	PAR-CLIP	27292025
MIRT540914	hsa-miR-939-3p	PAR-CLIP	27292025
MIRT540914	hsa-miR-939-3p	PAR-CLIP	27292025
MIRT540919	hsa-miR-4797-5p	PAR-CLIP	21572407
MIRT540918	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT540916	hsa-miR-5586-3p	PAR-CLIP	21572407
MIRT540917	hsa-miR-759	PAR-CLIP	21572407
MIRT540915	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540914	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT540913	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540912	hsa-miR-1285-3p	PAR-CLIP	21572407
MIRT540911	hsa-miR-3187-5p	PAR-CLIP	21572407
MIRT540909	hsa-miR-5189-5p	PAR-CLIP	21572407
MIRT540910	hsa-miR-612	PAR-CLIP	21572407
MIRT540908	hsa-miR-6860	PAR-CLIP	21572407
MIRT540907	hsa-miR-5186	PAR-CLIP	21572407
MIRT540906	hsa-miR-661	PAR-CLIP	21572407
MIRT540905	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540904	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540903	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT540919	hsa-miR-4797-5p	PAR-CLIP	21572407
MIRT540918	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT540916	hsa-miR-5586-3p	PAR-CLIP	21572407
MIRT540917	hsa-miR-759	PAR-CLIP	21572407
MIRT540915	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540914	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT540913	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540912	hsa-miR-1285-3p	PAR-CLIP	21572407
MIRT540911	hsa-miR-3187-5p	PAR-CLIP	21572407
MIRT540909	hsa-miR-5189-5p	PAR-CLIP	21572407
MIRT540910	hsa-miR-612	PAR-CLIP	21572407
MIRT540908	hsa-miR-6860	PAR-CLIP	21572407
MIRT540907	hsa-miR-5186	PAR-CLIP	21572407
MIRT540906	hsa-miR-661	PAR-CLIP	21572407
MIRT540905	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540904	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540903	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT1250122	hsa-miR-203	CLIP-seq
MIRT1250123	hsa-miR-4328	CLIP-seq
MIRT1250124	hsa-miR-4757-5p	CLIP-seq
MIRT1250122	hsa-miR-203	CLIP-seq
MIRT1250123	hsa-miR-4328	CLIP-seq
MIRT1250124	hsa-miR-4757-5p	CLIP-seq
MIRT2073845	hsa-miR-3170	CLIP-seq
MIRT2073846	hsa-miR-3182	CLIP-seq
MIRT2073847	hsa-miR-331-3p	CLIP-seq
MIRT2073848	hsa-miR-4260	CLIP-seq
MIRT2073849	hsa-miR-4307	CLIP-seq
MIRT2073850	hsa-miR-4711-3p	CLIP-seq
MIRT2300689	hsa-miR-4643	CLIP-seq
MIRT2392847	hsa-miR-4471	CLIP-seq
MIRT2392848	hsa-miR-448	CLIP-seq
MIRT2597550	hsa-miR-1179	CLIP-seq
MIRT2597551	hsa-miR-4289	CLIP-seq
MIRT2597552	hsa-miR-4310	CLIP-seq
MIRT2597553	hsa-miR-4511	CLIP-seq
MIRT2597554	hsa-miR-548b-3p	CLIP-seq
MIRT2597555	hsa-miR-664	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Activation	15380450
SREBF2	Activation	20728021

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004063	Function	Aryldialkylphosphatase activity	IBA	21873635
GO:0004063	Function	Aryldialkylphosphatase activity	IDA	7638166, 15098021
GO:0004064	Function	Arylesterase activity	IBA	21873635
GO:0004064	Function	Arylesterase activity	IDA	7638166, 15098021
GO:0004064	Function	Arylesterase activity	NAS	1673382
GO:0005509	Function	Calcium ion binding	IDA	15098021
GO:0005543	Function	Phospholipid binding	IDA	10479665
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	7638166
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0009636	Process	Response to toxic substance	IBA	21873635
GO:0010875	Process	Positive regulation of cholesterol efflux	IDA	15721011
GO:0016311	Process	Dephosphorylation	IEA
GO:0019372	Process	Lipoxygenase pathway	TAS
GO:0019439	Process	Aromatic compound catabolic process	IDA	15772423
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032411	Process	Positive regulation of transporter activity	IDA	15721011
GO:0034364	Component	High-density lipoprotein particle	IDA	15721011
GO:0034364	Component	High-density lipoprotein particle	TAS	10479665
GO:0034366	Component	Spherical high-density lipoprotein particle	IDA	16682745
GO:0034445	Process	Negative regulation of plasma lipoprotein oxidation	IDA	15342686
GO:0042803	Function	Protein homodimerization activity	IDA	15772423
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA
GO:0046395	Process	Carboxylic acid catabolic process	IDA	7638166
GO:0046434	Process	Organophosphate catabolic process	IDA	7638166
GO:0046470	Process	Phosphatidylcholine metabolic process	IDA	15721011
GO:0051099	Process	Positive regulation of binding	IDA	15721011
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070542	Process	Response to fatty acid	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0102007	Function	Acyl-L-homoserine-lactone lactonohydrolase activity	IEA
GO:1902617	Process	Response to fluoride	IEA

Other IDs

• MIM: 168820
• HGNC: 9204
• e!Ensembl: ENSG00000005421

Protein

• UniProt ID: P27169
• Protein name: Serum paraoxonase/arylesterase 1 (PON 1) (EC 3.1.1.2) (EC 3.1.1.81) (EC 3.1.8.1) (Aromatic esterase 1) (A-esterase 1) (K-45) (Serum aryldialkylphosphatase 1)
• Protein function: Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection
• PDB: 1V04
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01731	Arylesterase	168 → 253	Arylesterase	Family

• Tissue specificity: TISSUE SPECIFICITY: Plasma, associated with HDL (at protein level). Expressed in liver, but not in heart, brain, placenta, lung, skeletal muscle, kidney or pancreas. {ECO:0000269|PubMed:8292612, ECO:0000269|PubMed:8382160}.
• Sequence:

  MAKLIALTLLGMGLALFRNHQSSYQTRLNALREVQPVELPNCNLVKGIETGSEDLEILPN
  GLAFISSGLKYPGIKSFNPNSPGKILLMDLNEEDPTVLELGITGSKFDVSSFNPHGISTF
  TDEDNAMYLLVVNHPDAKSTVELFKFQEEEKSLLHLKTIRHKLLPNLNDIVAVGPEHFYG
  TNDHYFLDPYLQSWEMYLGLAWSYVVYYSPSEVRVVAEGFDFANGINISPDGKYVYIAEL
  LAHKIHVYEKHANWTLTPLKSLDFNTLVDNISVDPETGDLWVGCHPNGMKIFFYDSENPP
  ASEVLRIQNILTEEPKVTQVYAENGTVLQGSTVASVYKGKLLIGTVFHKALYCEL

• Sequence length: 355

Pathways

Reactome:

Synthesis of 5-eicosatetraenoic acids

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, Amyotrophic Lateral Sclerosis, Familial, Amyotrophic lateral sclerosis	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	23941283, 28070599, 20582942, 17204329
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	16027737, 22490277, 16297937
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	27989131
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	9215303, 21629682, 8675673
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	16229851, 19022366
Glomerulonephritis	Glomerulonephritis, Membranoproliferative	rs778043831	16175651
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, 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	16229851, 16238680, 16030523
Hyperhomocysteinemia	Hyperhomocysteinemia	rs121964962, rs121964963, rs121964964, rs5742905, rs121964966, rs121964967, rs121964968, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs398123151, rs786204466, rs786204679, rs763036586, rs771298943, rs758236584, rs775351239, rs764160782, rs770095972, rs760214620, rs786204757, rs794727083, rs781444670, rs149119723, rs769080151, rs372010465, rs777919630, rs863223432, rs863223430, rs773734233, rs762065361, rs775992753, rs778220779, rs863223435, rs199948079, rs148865119, rs779250698, rs886057100, rs1057516895, rs760417941, rs781567152, rs1057517373, rs766453711, rs763835246, rs755952006, rs1057517083, rs1057516256, rs751464024, rs748695461, rs757920190, rs1064794540, rs1064793703, rs377708532, rs528689432, rs757428597, rs1361324844, rs1347651454, rs1555871188, rs143124288, rs760609383, rs755625628, rs1555876784, rs1555869958, rs1555869979, rs1434118781, rs1555874121, rs763290176, rs1555874803, rs1555875292, rs865990681, rs1000697114, rs1568932835, rs1234354755, rs1170128038, rs1601339216, rs1981524462, rs376916741, rs373782713, rs1983442077	19028542, 17292331
Hyperlipoproteinemia	Hyperlipoproteinemias, Hyperlipoproteinemia Type IIa, Hyperlipoproteinemia Type IIb	rs118204056, 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	15324535, 16030523, 16238680
Hyperthyroidism	Hyperthyroidism, Primary Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167	14678291
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	17204329
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	16323636
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044	22800774
Metabolic syndrome	Metabolic Syndrome X	rs367643250, rs587777380, rs777736953	21573798
Nephrotic syndrome	Membranoproliferative Glomerulonephritis, Type I, Membranoproliferative Glomerulonephritis, Type II, Membranoproliferative Glomerulonephritis, Type III	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391	16175651
Parkinson disease	Parkinson Disease, Secondary Vascular, Secondary Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	26457621
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	21716162, 15538743, 12783936
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	16055108
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	19018234, 11880198

Unknown
Disease term	Disease name	Evidence	References	Source
Atherosclerosis	Atherosclerosis		21629682, 26241956, 16229851, 16216721, 19371607, 16331452	ClinVar
Brain neoplasms	Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain		16002382	ClinVar
Congestive heart failure	Congestive heart failure		26670611	ClinVar
Coronary heart disease	Coronary heart disease		16882531, 16353344	ClinVar
Coronary syndrome	Acute Coronary Syndrome		26241956	ClinVar
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided		26670611	ClinVar
Mental depression	Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic		19272368	ClinVar
Metabolic diseases	Metabolic Diseases		28396702	ClinVar
Myocardial infarction	Myocardial Failure		26670611	ClinVar
Amyotrophic Lateral Sclerosis	amyotrophic lateral sclerosis			GenCC
Dermatitis	Dermatitis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acrocephalosyndactylia	Associate	26241956
Acute Coronary Syndrome	Associate	22008470, 23418418, 26241956, 31772608
Acute Coronary Syndrome	Inhibit	23382833, 24736723
Adenocarcinoma	Associate	30097534
Adenomatous Polyps	Stimulate	19010307
Airway Remodeling	Associate	36138190
Albuminuria	Associate	19357718, 31092010
Alzheimer Disease	Associate	20980077, 23821382, 24965284, 30172926, 33935094, 35887259
Amyotrophic Lateral Sclerosis	Associate	17702780, 18313024, 18618303, 20582942, 30172926
Amyotrophic lateral sclerosis 1	Associate	20582942
Anemia Sickle Cell	Associate	37137941
Angina Pectoris	Associate	16308493
Anxiety	Associate	15060281
Aortic Aneurysm Abdominal	Stimulate	27934969
Aortic Valve Stenosis	Associate	29462797
Aphasia	Associate	38311492
Arthritis Rheumatoid	Associate	20198589, 20812194, 23917967, 25406539, 36138190
Asthma	Associate	25530140
Astrocytoma	Associate	20723250
Atherosclerosis	Associate	11259735, 11335891, 12621166, 12740482, 14636952, 16882531, 16914770, 17435182, 18492126, 18544231, 19454176, 19710913, 19778663, 20096260, 21322770, 21911985, 22615820, 22982463, 24526693, 26241956, 26795139, 26863932, 27338244, 28076455, 28761062, 29118461, 29215590, 29229890, 32148648, 33762698, 33844899, 37555413, 38508740, 8675673, 9506841, 9711883
Atherosclerosis	Inhibit	12466264, 16551349, 19672401, 19904013, 21629682, 21960140, 22188760, 23418418, 33762698
Attention Deficit Disorder with Hyperactivity	Associate	33910116, 38066446
Autism Spectrum Disorder	Associate	18624774
Autistic Disorder	Associate	18624774, 30172926
Barrett Esophagus	Associate	30097534
Blood Platelet Disorders	Associate	30098132
Bone Diseases	Associate	25322877
Brain Neoplasms	Associate	16002382
Breast Neoplasms	Associate	19379515, 24130171, 26763308, 26865587, 28445984, 29176871, 31983193, 35299679, 39519412
Breast Neoplasms	Inhibit	39195217
Calcium Metabolism Disorders	Inhibit	31092010
Cancer Familial with In Vitro Radioresistance	Associate	34041658
Carcinogenesis	Associate	19846948, 25741997
Carcinoma Hepatocellular	Associate	17702780, 25789864, 26632904, 30477582, 32076459, 33495404, 34147074, 35493518, 35892599, 36003068, 36263042, 37248957
Carcinoma Ovarian Epithelial	Associate	18708400
Carcinoma Renal Cell	Associate	21308654
Cardiomyopathies	Associate	27313824
Cardiomyopathy Restrictive	Associate	12621166
Cardiovascular Diseases	Associate	12226554, 15169886, 15576850, 16141008, 18349088, 19151417, 19672401, 23160181, 24364225, 24721823, 26870959, 27022137, 27338244, 27812605, 28862184, 30410197, 31900240, 33762698, 33844899, 34593900, 9011577
Carotid Artery Diseases	Associate	15576850, 32214403
Carotid Stenosis	Associate	23917967, 25880731, 32148648
Cataract	Associate	28862184
Cerebral Infarction	Associate	16551349, 21982484, 24711634, 29215590
Cerebrovascular Disorders	Associate	17949258, 24711634, 29682786
Chromosome 7 trisomy mosaic	Associate	24247273
Chronic Kidney Disease Mineral and Bone Disorder	Associate	27313824
Colorectal Neoplasms	Associate	25684529
Constriction Pathologic	Associate	32148648
Corneal Endothelial Cell Loss	Inhibit	34944413
Coronary Artery Disease	Associate	12454802, 12740482, 15654230, 16141008, 16729301, 18219093, 19778663, 20872564, 21629682, 21769819, 23382833, 23391848, 23418418, 25155309, 26467378, 26697134, 29118461, 29229890, 30261890, 32702814, 34764653, 34975123, 36074479, 36574567, 36980959, 8675673
Coronary Artery Disease	Inhibit	17704557, 21223581, 25155309, 31092010
Coronary Disease	Associate	11230170, 12226554, 12621166, 14636952, 16327022, 16882531, 20424303, 21543280, 21982484, 22388798, 24721823, 25746376, 27091178, 29953969, 33188964, 34593900, 9443862
Coronary Disease	Inhibit	25746376
Coronary Restenosis	Associate	12871320
Coronary Stenosis	Associate	20872564, 26697134
COVID 19	Associate	33504824, 34232570, 34566994, 36314852, 38066446
Coxa Magna	Associate	24206655, 29049204
Cushing's symphalangism	Associate	12454802
Cystic Fibrosis	Associate	2879440, 3467587
Death	Associate	18349088, 19778663, 19846948, 23418418, 33762698, 34593900, 36314852, 40469570
Dementia	Associate	23821382, 35299244
Dementia Vascular	Associate	24965284
Depressive Disorder	Associate	28689109
Diabetes Complications	Associate	26884296
Diabetes Gestational	Associate	28347194, 32090118
Diabetes Mellitus	Associate	15654230, 17949258, 19357718, 20424303, 21223581, 22846213, 23160181, 25477710, 9011577, 9711883
Diabetes Mellitus Type 1	Associate	18469206, 26884296
Diabetes Mellitus Type 2	Associate	15974833, 17704557, 19151417, 22846213, 27022137, 28347194, 28396702, 28761062, 29025405, 9869659
Diabetes Mellitus Type 2	Inhibit	32926601
Diabetic Angiopathies	Associate	17949258
Diabetic Nephropathies	Associate	26884296
Diabetic Retinopathy	Associate	20551012, 28862184
Drug Related Side Effects and Adverse Reactions	Associate	9313934
Dyslipidemias	Associate	30891852, 36074479, 40428368
Endometrial Neoplasms	Associate	30178714
Epileptic Syndromes	Associate	16238680
Essential Hypertension	Associate	27668323
Eye Diseases	Associate	28862184
Fatty Liver	Associate	34389043
Fluorosis Dental	Associate	35646794
Follicular Cyst	Associate	23651475
Glaucoma	Associate	26773174
Glioma	Associate	24719188, 34114970
Glomerulonephritis	Associate	22555481
Glomerulonephritis Membranous	Associate	22555481
Glucosephosphate Dehydrogenase Deficiency	Associate	25935173
Heart Neoplasms	Associate	27313824
Hemochromatosis	Associate	23471031
Hemolysis	Associate	37137941
Hemolytic Uremic Syndrome	Associate	11259735
Hepatitis B	Associate	26632904
Hepatitis B Chronic	Associate	26632904
Hepatitis C	Associate	25789864
Hereditary Breast and Ovarian Cancer Syndrome	Associate	35299679
Heredodegenerative Disorders Nervous System	Associate	33935094
HIV Infections	Inhibit	26343868
Hodgkin Disease	Associate	32235718
Hyperandrogenism	Associate	15181035, 20334584
Hyperemesis Gravidarum	Inhibit	18544231
Hyperhomocysteinemia	Associate	20551012
Hyperlipidemias	Associate	22555481, 26773174
Hyperlipoproteinemia Type II	Associate	15576850, 29229890
Hypertension	Associate	19357718, 23893804, 27668323, 30381540
Hypoalphalipoproteinemias	Stimulate	26667175
Hypoxia	Stimulate	23638097, 27038472
Hypoxia Brain	Associate	33188964
Infections	Associate	36314852
Inflammation	Associate	12466264, 19151417, 22822045, 23160181, 26114387, 29025405, 29049176, 34944413, 36926335, 37137941, 37248957, 9506841
Inflammation	Inhibit	12639220, 18544231, 26039660, 26632904, 29682786, 33762698, 39175081
Insulin Resistance	Associate	12621166, 15181035, 22846213
Intrahepatic Cholestasis of Pregnancy	Associate	30654664
Ischemia	Associate	26241956
Ischemic Attack Transient	Associate	29385837
Keratoconus	Associate	34012229
Kidney Calculi	Associate	26795139
Kidney Diseases	Associate	16729301, 22555481, 25155309, 26884296
Kidney Failure Chronic	Associate	26764205, 29682786
Leiomyoma	Associate	32930135
Leukoencephalopathies	Associate	17469180
Lipid Metabolism Disorders	Associate	24206655
Liver Cirrhosis	Associate	26632904
Liver Diseases	Associate	18469206, 26632904, 34389043
Liver Neoplasms	Associate	17702780
Lung Diseases Interstitial	Associate	34698804
Lung Neoplasms	Inhibit	24085812
Lung Neoplasms	Associate	25741997, 27168012
Lupus Erythematosus Systemic	Associate	16729301, 21223581, 23893804
Lupus Nephritis	Associate	21223581
Lymphoma	Associate	23651475
Lymphoma B Cell	Associate	23651475
Lymphoma Large B Cell Diffuse	Associate	23651475
Lymphoma Non Hodgkin	Associate	12139735
Macular Degeneration	Associate	20042177, 22956172, 28862184
Malnutrition	Associate	23438848
Metabolic Diseases	Associate	28396702, 35976206
Metabolic Syndrome	Associate	25037113, 25241610, 26193203, 39519412
Microvascular Angina	Associate	16308493
Mood Disorders	Associate	25037113, 25153516
Mouth Diseases	Associate	33936387
Multiple Myeloma	Associate	33531688
Myocardial Infarction	Associate	15654230, 18349088, 19443958, 20424303, 23418418, 25155309, 36980959
Myocardial Ischemia	Associate	19778663
Myoma	Associate	32930135
Myositis	Associate	34698804
Nasopharyngeal Carcinoma	Associate	25880731
Neointima	Associate	26795139
Neoplasm Metastasis	Associate	19846948, 30477582
Neoplasm Metastasis	Inhibit	29176871
Neoplasms	Associate	12139735, 19379515, 23438848, 24719188, 26632904, 26763308, 28445984, 30477582, 33495404, 36653584
Nephrolithiasis	Associate	26795139
Nerve Degeneration	Associate	28689109, 37526811
Nervous System Diseases	Associate	30172926
Neuraminidase 1 deficiency	Associate	18469206
Neuroectodermal Tumors	Associate	16002382
Non ST Elevated Myocardial Infarction	Associate	26241956
Obesity	Associate	15654230, 18708400, 19818126, 21078685, 22822045, 23658746, 25241610, 26865587, 34389043
Organophosphate Poisoning	Associate	9313934
Otosclerosis	Associate	27387094
Ovarian Neoplasms	Associate	18708400, 19454508
Overweight	Associate	18469206
Pancreatic Neoplasms	Associate	23438848
Pancreatitis	Associate	36142575, 36360205
Parkinson Disease	Associate	19907334, 20947215, 23602893, 28689109, 30172926, 32002976, 36926335
Parkinson Disease	Inhibit	32002976
Parkinson Disease Secondary	Associate	32002976
Persian Gulf Syndrome	Associate	9313934
Plaque Atherosclerotic	Associate	16551349
Poisoning	Associate	11335891
Polycystic Ovary Syndrome	Associate	15181035, 25956367
Polycystic Ovary Syndrome	Inhibit	34041658
Post Acute COVID 19 Syndrome	Associate	36314852
Prader Willi Syndrome	Inhibit	22822045
Pre Eclampsia	Associate	19454176
Preeclamptic toxemia	Associate	19454176
Prostate cancer familial	Associate	32429655
Prostatic Neoplasms	Associate	23768700, 29050675, 32429655
Proteinuria	Associate	19151417
Pulmonary Disease Chronic Obstructive	Associate	29953969
Pyruvate Carboxylase Deficiency Disease	Associate	32429655
Rectal Neoplasms	Associate	33886674
Renal cysts and diabetes syndrome	Associate	19151417
Renal Insufficiency	Associate	19357718
Renal Insufficiency Chronic	Associate	19357718
Renal Insufficiency Chronic	Inhibit	25155309
Respiratory Sounds	Associate	33007939
Retinal Vein Occlusion	Associate	23441121
Rhinitis Allergic	Associate	31185305
Sepsis Associated Encephalopathy	Stimulate	37958765
Small Cell Lung Carcinoma	Inhibit	24085812
Small Cell Lung Carcinoma	Associate	24085812, 40469570
Smoke Inhalation Injury	Associate	25037113, 25746376
ST Elevation Myocardial Infarction	Associate	26241956, 36574567
Status Asthmaticus	Associate	25530140
Stomach Neoplasms	Associate	25545243
Stroke	Associate	16551349, 16766384, 18349088, 24711634, 30410197, 33762698, 37137941
Tachycardia Atrioventricular Nodal Reentry	Associate	28445984
Tarlov Cysts	Associate	19846948
Thrombosis	Associate	22190063, 23418418
Thrombosis	Inhibit	33762698
Tn Syndrome	Associate	35628426
Tobacco Use Disorder	Associate	25037113
Urinary Bladder Neoplasms	Associate	19846948
Urolithiasis	Associate	26795139
Vascular Diseases	Associate	15995178, 16474172
Venous Thromboembolism	Associate	19263529
Ventricular Dysfunction Left	Associate	27313824