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ADCY1 (adenylate cyclase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
107
Gene nameGene Name - the full gene name approved by the HGNC.
Adenylate cyclase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ADCY1
SynonymsGene synonyms aliases
AC1, DFNB44
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p12.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple tra
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777497 C>T Pathogenic Coding sequence variant, stop gained, 3 prime UTR variant, genic downstream transcript variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT052078 hsa-let-7b-5p CLASH 23622248
MIRT044544 hsa-miR-320a CLASH 23622248
MIRT043290 hsa-miR-331-3p CLASH 23622248
MIRT042602 hsa-miR-423-3p CLASH 23622248
MIRT767783 hsa-miR-1 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003091 Process Renal water homeostasis TAS
GO:0004016 Function Adenylate cyclase activity IBA 21873635
GO:0005516 Function Calmodulin binding IEA
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q08828
Protein name Adenylate cyclase type 1 (EC 4.6.1.1) (ATP pyrophosphate-lyase 1) (Adenylate cyclase type I) (Adenylyl cyclase 1) (Ca(2+)/calmodulin-activated adenylyl cyclase)
Protein function Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16214 AC_N
34 292
Adenylyl cyclase N-terminal extracellular and transmembrane region
Family
PF00211 Guanylate_cyc
294 477
Adenylate and Guanylate cyclase catalytic domain
Domain
PF00211 Guanylate_cyc
859 1056
Adenylate and Guanylate cyclase catalytic domain
Domain
Sequence
MAGAPRGGGGGGGGAGEPGGAERAAGTSRRRGLRACDEEFACPELEALFRGYTLRLEQAA
TLKALAVLSLLAGALALAELLGAPGPAPGLAKGSHPVHCVLFLALLVVTNVRSLQVPQLQ
QVGQLALLFSLTFALLCCPFALGGPARGSAGAAGGPATAEQGVWQLLLVTFVSYALLPVR
SLLAIGFGLVVAASHLLVTATLVPAKRPRLWRTLGANALLFVGVNMYGVFVRILTERSQR
KAFLQARSCIEDRLRLEDENEKQERLLMSLLPRNVAMEMKEDFLKPPERIFH
KIYIQRHD
NVSILFADIVGFTGLASQCTAQELVKLLNELFGKFDELATENHCRRIKILGDCYYCVSGL
TQPKTDHAHCCVEMGLDMIDTITSVAEATEVDLNMRVGLHTGRVLCGVLGLRKWQYDVWS
NDVTLANVMEAAGLPGKVHITKTTLACLNGDYEVEPGYGHERNSFLKTHNIETFFIV
PSH
RRKIFPGLILSDIKPAKRMKFKTVCYLLVQLMHCRKMFKAEIPFSNVMTCEDDDKRRALR
TASEKLRNRSSFSTNVVYTTPGTRVNRYISRLLEARQTELEMADLNFFTLKYKHVEREQK
YHQLQDEYFTSAVVLTLILAALFGLVYLLIFPQSVVVLLLLVFCICFLVACVLYLHITRV
QCFPGCLTIQIRTVLCIFIVVLIYSVAQGCVVGCLPWAWSSKPNSSLVVLSSGGQRTALP
TLPCESTHHALLCCLVGTLPLAIFFRVSSLPKMILLSGLTTSYILVLELSGYTRTGGGAV
SGRSYEPIVAILLFSCALALHARQVDIRLRLDYLWAAQAEEEREDMEKVKLDNRRILFNL
LPAHVAQHFLMSNPRNMDLYYQSYSQVGVMFASIPNFNDFYIELDGNNMGVECLRLLNEI
IADFDELMEKDFYKDIEKIKTIGSTYMAAVGLAPTSGTKAKKSISSHLSTLADFAIEMFD
VLDEINYQSYNDFVLRVGINVGPVVAGVIGARRPQYDIWGNTVNVASRMDSTGVQGRIQV
TEEVHRLLRRCPYHFVCRGKVSVKGKGEMLTYFLEG
RTDGNGSQIRSLGLDRKMCPFGRA
GLQGRRPPVCPMPGVSVRAGLPPHSPGQYLPSAAAGKEA
Sequence length 1119
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.
 
KEGG
 
Reactome
  Purine metabolism
Metabolic pathways
Endocrine resistance
Rap1 signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Phospholipase D signaling pathway
Hormone signaling
Oocyte meiosis
Longevity regulating pathway
Longevity regulating pathway - multiple species
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Apelin signaling pathway
Gap junction
Platelet activation
Circadian entrainment
Thermogenesis
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
GABAergic synapse
Inflammatory mediator regulation of TRP channels
Insulin secretion
GnRH signaling pathway
Ovarian steroidogenesis
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Melanogenesis
Thyroid hormone synthesis
Oxytocin signaling pathway
Regulation of lipolysis in adipocytes
Aldosterone synthesis and secretion
Relaxin signaling pathway
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
Cushing syndrome
Growth hormone synthesis, secretion and action
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Bile secretion
Morphine addiction
Chagas disease
Amoebiasis
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Pathways in cancer
Chemical carcinogenesis - receptor activation
Dilated cardiomyopathy
  Glucagon signaling in metabolic regulation
PKA activation
PKA activation in glucagon signalling
Adenylate cyclase activating pathway
Adenylate cyclase inhibitory pathway
G alpha (s) signalling events
G alpha (z) signalling events
Vasopressin regulates renal water homeostasis via Aquaporins
Hedgehog 'off' state
ADORA2B mediated anti-inflammatory cytokines production
FCGR3A-mediated IL10 synthesis
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Deafness DEAFNESS, AUTOSOMAL RECESSIVE (disorder), DEAFNESS, AUTOSOMAL RECESSIVE 44 rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs145666727, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs1584304377, rs760413427, rs773861155, rs1584337228, rs1584337274, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854 24482543
Duchenne muscular dystrophy Muscular Dystrophy, Duchenne rs128625226, rs128625227, rs128625228, rs128625229, rs2147483647, rs104894787, rs128625230, rs128626234, rs201366610, rs267606770, rs128626235, rs128626231, rs146071084, rs128626232, rs104894788, rs128626233, rs128626238, rs128626239, rs128626240, rs128626241, rs1556834513, rs128626242, rs128626243, rs128626244, rs128626245, rs128626246, rs128626247, rs128626248, rs128626249, rs128626250, rs128626251, rs128626252, rs128626253, rs128626254, rs104894790, rs104894797, rs5030730, rs1569528138, rs587776747, rs128627256, rs128627257, rs398122853, rs398123827, rs398123828, rs398123832, rs398123833, rs398123834, rs398123835, rs398123838, rs398123839, rs398123846, rs398123852, rs398123853, rs72468700, rs398123856, rs398123862, rs398123863, rs398123865, rs398123866, rs398123870, rs398123872, rs398123873, rs398123881, rs398123882, rs398123883, rs398123884, rs398123885, rs398123887, rs398123888, rs398123889, rs398123892, rs398123893, rs398123901, rs398123903, rs398123905, rs398123909, rs398123912, rs398123915, rs398123919, rs398123920, rs398123923, rs398123929, rs398123934, rs398123935, rs398123937, rs398123938, rs398123942, rs398123948, rs398123950, rs398123952, rs398123953, rs398123957, rs398123960, rs398123962, rs398123963, rs398123970, rs398123971, rs398123973, rs398123977, rs398123979, rs398123980, rs398123981, rs398123990, rs1064325, rs398123991, rs398123997, rs398123999, rs398124003, rs398124007, rs398124008, rs398124012, rs398124033, rs398124034, rs398124036, rs398124038, rs398124039, rs398124040, rs398124042, rs398124044, rs398124050, rs398124051, rs398124055, rs398124058, rs398124060, rs398124062, rs398124068, rs398124070, rs398124072, rs398124073, rs398124074, rs398124075, rs398124078, rs398124091, rs398124092, rs398124094, rs398124096, rs398124099, rs398124104, rs398124105, rs373286166, rs727503850, rs727503802, rs727503864, rs794726993, rs794727030, rs794727123, rs794727357, rs794727359, rs794727422, rs794727463, rs794727499, rs794727661, rs794727666, rs797044764, rs201361100, rs796065333, rs794727862, rs794727890, rs797045526, rs146880270, rs863224977, rs863224976, rs863224975, rs863225018, rs863225017, rs863225015, rs863225014, rs863225013, rs863225012, rs863225011, rs863225010, rs863225009, rs762394978, rs863225008, rs863225007, rs863225006, rs863225005, rs863225004, rs863225003, rs863225002, rs777864641, rs863225001, rs863225000, rs863224999, rs863224998, rs863224997, rs863224994, rs863224993, rs863224992, rs756949497, rs863224988, rs863224987, rs863224986, rs762860653, rs863224985, rs863224984, rs863224983, rs863224982, rs863224981, rs863224980, rs863224979, rs863224978, rs863224996, rs863224995, rs863224991, rs863224990, rs863224989, rs878854366, rs779739455, rs878854621, rs770845480, rs762250680, rs878854619, rs878854618, rs886039681, rs886039532, rs886039478, rs886039535, rs886039536, rs886039785, rs886041344, rs886042106, rs886042154, rs886042495, rs886042499, rs886042604, rs886042747, rs886042840, rs886042875, rs398124032, rs886042983, rs886043041, rs886043084, rs763936813, rs886043251, rs886043375, rs886043496, rs886043640, rs886043676, rs886043699, rs886043822, rs886043909, rs886043989, rs748769566, rs886044324, rs886044402, rs886044455, rs886044490, rs886044502, rs886044582, rs1057518207, rs1057518962, rs1057518692, rs1057520764, rs1556641290, rs1060502653, rs1064792968, rs1060502624, rs1060502621, rs765445866, rs1060502645, rs1064792967, rs1060502659, rs1060502620, rs1060502643, rs1060502641, rs1060502639, rs1060502636, rs1060502661, rs1060502635, rs1060502629, rs1060502644, rs72470513, rs1557079469, rs1060502626, rs1060502625, rs1060502630, rs1057524037, rs1060502633, rs1060502656, rs1060502648, rs1060502619, rs1060502646, rs1060502623, rs1060502632, rs1060502640, rs1557380496, rs1060502647, rs1060502637, rs1060502634, rs1060502615, rs1060502627, rs1557084128, rs1060502652, rs1064794569, rs1064793479, rs1064793986, rs1064793964, rs1556665303, rs753662330, rs1556790316, rs1556656184, rs1556764743, rs1556764753, rs1556806356, rs773643220, rs1556875180, rs1340365803, rs1556656851, rs1557316295, rs1556046080, rs1556256329, rs1556656487, rs1556962223, rs1556962571, rs1557011973, rs1557291170, rs1556930769, rs104894789, rs1556665052, rs1556917057, rs1557305645, rs182575709, rs1556656818, rs1557218076, rs1239018406, rs1557084067, rs1557300135, rs1556035795, rs1556037455, rs1556853039, rs1556880354, rs1557380616, rs1557047827, rs1557396600, rs1557374667, rs796523999, rs1557320151, rs1057517960, rs1557304860, rs770183212, rs1557218093, rs1557038061, rs1557320194, rs1233380601, rs1557294228, rs1557011929, rs1557322838, rs1057518284, rs1557291242, rs1557292678, rs1557322834, rs1557058415, rs1556780579, rs1556930579, rs1557369493, rs1556764934, rs1556962271, rs1557315928, rs1555998436, rs1556764922, rs1556656847, rs1557218131, rs1557369413, rs1557369991, rs1557374482, rs1055371114, rs1556040444, rs1557291229, rs1010666282, rs1556028034, rs1556929259, rs1556930839, rs1557303544, rs1557380685, rs1556802319, rs1556809704, rs1557058308, rs1557058350, rs1385794215, rs1556035817, rs1556503937, rs1556656456, rs1556764880, rs1556789913, rs1557322201, rs1557359217, rs1557362198, rs1556853298, rs1556875224, rs1556876346, rs1556852444, rs1569460607, rs1569530432, rs1569451994, rs1569452000, rs1569559106, rs144732570, rs1569273905, rs1569526122, rs1569562941, rs1569230406, rs1569559822, rs1569526579, rs1569528101, rs1569533965, rs1569546174, rs1569559110, rs1569559849, rs1569562936, rs1569562952, rs1057522454, rs149106712, rs1569469298, rs1569401103, rs1209389771, rs1569563678, rs1569560739, rs868688877, rs1569558953, rs1569230215, rs1569563751, rs1569565192, rs1569559204, rs1569186252, rs1569558906, rs1569533147, rs1569559097, rs1569564281, rs1569562466, rs1569169560, rs1429329309, rs1569460722, rs1569556943, rs1569420861, rs1569213903, rs374744331, rs1569463953, rs1569230293, rs1295394996, rs1602451773, rs1602145926, rs1602416457, rs886043597, rs1602728959, rs72466562, rs1602938385, rs1603222095, rs1603280511, rs1603452196, rs142500746, rs1254776844, rs1603513684, rs1603513697, rs1603618489, rs1603632245, rs1603632312, rs1603634298, rs1603634608, rs1603634744, rs1602169535, rs1602460062, rs1603432076, rs1603441550, rs1602766725, rs1603419076, rs1603447081, rs1603631757, rs1601809011, rs1602727611, rs1603222556, rs1602146767, rs1602337330, rs895755247, rs1602369798, rs1602409174, rs1602417503, rs1181271457, rs1602454605, rs1602454639, rs1602454747, rs1602455302, rs1602455747, rs1602456486, rs1602669026, rs1602695597, rs1602696519, rs1602730254, rs1602947628, rs1603253563, rs1601864055, rs1602056443, rs1602937974, rs1556656077, rs1603221854, rs1603222424, rs1603222574, rs1603222897, rs1603222922, rs1603223025, rs794727770, rs1603226023, rs1603264641, rs1603264659, rs1603264705, rs1603264731, rs1603280686, rs1603280745, rs1603280796, rs1603430178, rs1603430181, rs1603445277, rs1603445278, rs1603445283, rs1603445332, rs1603445344, rs1603452207, rs1603513680, rs1603513803, rs1603513817, rs1603513828, rs1603514271, rs1603514272, rs201818335, rs1603615883, rs1603628479, rs1603628482, rs1603628483, rs1603628485, rs1603628487, rs1603629988, rs1603630431, rs1603631225, rs1603631240, rs1603631241, rs1603631244, rs1603631367, rs1603631368, rs373428963, rs1603631705, rs1603631744, rs1603631752, rs1603631756, rs1603632117, rs1603632119, rs771425504, rs1216000876, rs1603632248, rs1603632309, rs1603632311, rs1603632314, rs1603632316, rs772220893, rs1603632322, rs1603632324, rs1603632326, rs1603633486, rs1603633541, rs1603633545, rs1339088514, rs398123943, rs1603633864, rs1603633868, rs1603634079, rs1569563740, rs1603634105, rs1603634199, rs1603634203, rs1603634206, rs1603634207, rs1603634299, rs1603634603, rs1603634604, rs1603634607, rs1603634609, rs747937552, rs1603634742, rs1603634743, rs1603634745, rs1603634746, rs1603634747, rs1603634748, rs1603635326, rs1603635331, rs1603635949, rs1603635950, rs1603635953, rs1603636537, rs1603636541, rs1601808288, rs1601808296, rs1601808326, rs1601808608, rs1601810667, rs1602467530, rs1602467590, rs1602467787, rs1602468968, rs1602469251, rs1602469384, rs1603137168, rs1603149954, rs1603150335, rs1603150993, rs374222301, rs1603151699, rs1603432059, rs794727863, rs1603437254, rs1603437272, rs1603441629, rs1603447057, rs1603447072, rs1602765633, rs1602766499, rs1602766531, rs1602766655, rs1403865104, rs1603419074, rs768892830, rs1603631365, rs1602765856, rs1602338283, rs1602360475, rs1603631219, rs1603634749, rs1602459252, rs2040217313, rs376745644, rs2040714340, rs2041309291, rs2044445392, rs2067953453, rs2068036881, rs2068038543, rs2078916448, rs2090513299, rs2094827204, rs2094864356, rs2095370524, rs1425702864, rs2097850041, rs2098390819, rs2042979418, rs2046036327, rs2052700227, rs2077781516, rs2080979223, rs2040711393, rs2097447247, rs2098280263, rs2098391032, rs2063781031, rs2080514041, rs2036834025, rs2063903818 30014611
Lung carcinoma Small cell carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 22941189
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, 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 29121268
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 29121268
Non-syndromic sensorineural deafness Autosomal recessive non-syndromic sensorineural deafness type DFNB
Sensorineural hearing loss Prelingual sensorineural hearing impairment

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