COX8A (cytochrome c oxidase subunit 8A)

Gene

• Entrez ID: 1351
• Gene name: Cytochrome c oxidase subunit 8A
• Gene symbol: COX8A
• Synonyms: COX, COX8, COX8-2, COX8L, MC4DN15, VIII, VIII-L
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs869025575	G>C	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030182	hsa-miR-26b-5p	Microarray	19088304
MIRT042264	hsa-miR-484	CLASH	23622248
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905596	hsa-miR-3144-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905600	hsa-miR-4276	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905610	hsa-miR-4697-3p	CLIP-seq
MIRT905611	hsa-miR-4716-3p	CLIP-seq
MIRT905612	hsa-miR-624	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905600	hsa-miR-4276	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905610	hsa-miR-4697-3p	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905596	hsa-miR-3144-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905600	hsa-miR-4276	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905610	hsa-miR-4697-3p	CLIP-seq
MIRT905611	hsa-miR-4716-3p	CLIP-seq
MIRT905612	hsa-miR-624	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004129	Function	Cytochrome-c oxidase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	2543673
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0045277	Component	Respiratory chain complex IV	IBA	21873635
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 123870
• HGNC: 2294
• e!Ensembl: ENSG00000176340

Protein

• UniProt ID: P10176
• Protein name: Cytochrome c oxidase subunit 8A, mitochondrial (Cytochrome c oxidase polypeptide VIII-liver/heart) (Cytochrome c oxidase subunit 8-2)
• Protein function: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu
• PDB: 5Z62, 8D4T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02285	COX8	26 → 68	Cytochrome oxidase c subunit VIII	Family

• Sequence:

  MSVLTPLLLRGLTGSARRLPVPRAKIHSLPPEGKLGIMELAVGLTSCFVTFLLPAGWILS
  HLETYRRPE

• Sequence length: 69

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

TP53 Regulates Metabolic Genes
Respiratory electron transport

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Fanconi syndrome	Adult Fanconi syndrome	rs398124646
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, 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, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114, rs483352894, rs121908282, rs549625604, rs137852832, rs1587620953, rs104893680, rs587777805, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs267607017, rs80338903, rs397518008, rs111033367, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs80338904, rs121909398, rs119103286, rs587777809, rs121434241, rs121434242, rs121434243, rs121434236, rs121434238, rs121434239, rs121434240, rs267607034, rs267606874, rs267606876, rs267606875, rs1555468634, rs28940869, rs193919337, rs587776589, rs119475042, rs587776590, rs119475043, rs1600344451, rs1600337143, rs587776591, rs121908140, rs1085307049, rs111033258, rs121908142, rs111033267, rs137852959, rs121908175, rs121908178, rs121908179, rs138043021, rs397515359, rs397515360, rs730880273, rs119489105, rs371956016, rs1600169350, rs104894492, rs104894493, rs28937873, rs121912631, rs1567160967, rs886037612, rs137853005, rs62635656, rs62635655, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs281865175, rs104894082, rs869320726, rs869320727, rs104894083, rs869320728, rs121909073, rs121909074, rs121909075, rs121909076, rs1581734819, rs1581742970, rs104894672, rs104894178, rs201578674, rs61751386, rs267607077, rs121918532, rs1567360969, rs137852696, rs104893967, rs61750173, rs118203888, rs62638644, rs62638651, rs62642057, rs62638634, rs62638637, rs137852549, rs606231180, rs606231181, rs62638646, rs2147248070, rs137852550, rs137852284, rs104894925, rs28933687, rs104894926, rs2147081376, rs104894927, rs35689081, rs113624356, rs121917777, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893774, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs29001653, rs104893780, rs104893781, rs104893787, rs28933395, rs104893786, rs104893782, rs104893791, rs104893792, rs104893788, rs104893793, rs104893794, rs121918590, rs104893795, rs104893797, rs137853290, rs766278489, rs28933990, rs137853291, rs1598717056, rs121918579, rs121918580, rs730880317, rs121918581, rs1553801591, rs121918583, rs121918576, rs121918577, rs121918578, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs61755777, rs61755806, rs121918563, rs61755793, rs61755792, rs61755816, rs61755786, rs61755771, rs61755794, rs61755783, rs104894459, rs763191889, rs121912550, rs121912552, rs121909599, rs121909600, rs62625014, rs104893736, rs781781440, rs779514800, rs387906646, rs387906648, rs62653011, rs121909835, rs869320618, rs61751399, rs775098953, rs374390376, rs387906971, rs1911001854, rs147394623, rs786200928, rs1064792852, rs387907136, rs387907137, rs387907192, rs376586707, rs201188361, rs387907268, rs747425652, rs1573554264, rs387907314, rs199476194, rs62645748, rs397514574, rs397514575, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033385, rs111033417, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518013, rs397518014, rs397518018, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518046, rs41308425, rs397518048, rs73090721, rs111033263, rs146150511, rs387907367, rs386833717, rs386834012, rs386834019, rs386834024, rs386834152, rs398122391, rs879255568, rs398122960, rs398122961, rs398122962, rs398122963, rs398122964, rs398122525, rs398123298, rs398123336, rs1800728, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs149614625, rs587777086, rs431905521, rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755807, rs61755810, rs61755817, rs62645935, rs281865373, rs61748433, rs62635002, rs62653030, rs281865304, rs62638633, rs62638645, rs62640589, rs61751276, rs61751281, rs61751282, rs62637006, rs62637007, rs61752873, rs281865285, rs61752883, rs61752884, rs281865286, rs61748550, rs61748558, rs61748559, rs61751385, rs61749409, rs61749414, rs61749418, rs61752401, rs61751263, rs62654397, rs61748526, rs61751395, rs61749433, rs61752407, rs62642570, rs61749451, rs61749459, rs61750065, rs61751398, rs62645946, rs61750137, rs61754044, rs61750140, rs61751402, rs281865377, rs61751388, rs61750152, rs62642574, rs61750155, rs61750567, rs61753023, rs61750571, rs61751406, rs61753029, rs61753030, rs61751389, rs61750639, rs61753043, rs61750653, rs61750654, rs61753046, rs63749055, rs62645958, rs62645944, rs62636511, rs281865168, rs281865171, rs281865166, rs62638179, rs281865188, rs62645754, rs62636264, rs62636266, rs62636267, rs62636273, rs62635659, rs62645752, rs137853923, rs730880283, rs587777272, rs587777273, rs202210819, rs587777376, rs587777377, rs483353056, rs587777599, rs527236085, rs527236089, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs148460146, rs527236101, rs527236100, rs527236102, rs527236062, rs527236055, rs527236056, rs527236109, rs527236108, rs527236111, rs527236112, rs527236092, rs527236059, rs527236058, rs527236077, rs527236072, rs527236075, rs527236073, rs527236065, rs527236074, rs527236071, rs527236068, rs527236069, rs527236078, rs527236066, rs527236076, rs527236070, rs527236067, rs527236082, rs527236060, rs527236061, rs372989281, rs527236079, rs527236116, rs527236087, rs201493928, rs527236105, rs527236083, rs527236134, rs527236096, rs527236113, rs527236114, rs527236086, rs527236094, rs144738703, rs527236095, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236125, rs527236121, rs527236123, rs55958016, rs527236120, rs527236118, rs587783013, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504075, rs730882149, rs730882261, rs148412181, rs746523071, rs786204428, rs750228923, rs749909863, rs786205444, rs786205445, rs786205447, rs786205450, rs767745816, rs2723341, rs786205493, rs368098126, rs761628767, rs786205533, rs786205534, rs786205535, rs786205545, rs786205564, rs763295314, rs797044561, rs793888523, rs786205610, rs786205626, rs786205644, rs786205652, rs750542962, rs863223342, rs863223341, rs863223338, rs863223344, rs863223339, rs863223340, rs779007169, rs863223343, rs786205856, rs786205857, rs786205858, rs794726979, rs372354156, rs794727120, rs794727139, rs794727197, rs794727281, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs794727631, rs797044735, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794727903, rs875989821, rs781192528, rs386833744, rs746174328, rs797045089, rs752683070, rs770258677, rs797045120, rs376306240, rs368049814, rs770558150, rs797045224, rs863224862, rs863224894, rs759781200, rs771214648, rs372659908, rs201541131, rs869312182, rs869312180, rs869312179, rs758052437, rs869312177, rs869312188, rs869312183, rs869312187, rs1060499536, rs749012133, rs762951570, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs876657718, rs876661403, rs775177930, rs61750138, rs768278935, rs201471607, rs61749427, rs61752398, rs765707028, rs767648174, rs368675850, rs878853407, rs878853413, rs878853410, rs878853354, rs878853353, rs750151209, rs761440783, rs199584830, rs878853350, rs878853349, rs143994166, rs878853327, rs878853328, rs760430056, rs878853394, rs868538598, rs879253768, rs879255547, rs200826424, rs368217569, rs886037911, rs886037947, rs886037948, rs886037949, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs886039422, rs753355844, rs748810737, rs886039867, rs886041040, rs886041502, rs748394238, rs770185023, rs753353134, rs886041773, rs886041376, rs886041178, rs758109813, rs750396156, rs886042613, rs749526785, rs886042722, rs371777049, rs115352681, rs773539640, rs886043417, rs886043587, rs201855602, rs886044304, rs770748359, rs770284500, rs141563823, rs752953889, rs762991211, rs749199721, rs1057517533, rs536593247, rs373208120, rs376894444, rs1057517844, rs374536346, rs116471343, rs865990202, rs1057517700, rs543698823, rs1057518922, rs1057518949, rs368088025, rs1057519193, rs556788423, rs1057519316, rs1057519427, rs1057519317, rs1057519341, rs1057520152, rs759898765, rs397517979, rs199840367, rs61750638, rs779466403, rs1057520213, rs766246531, rs1060499783, rs1060501181, rs987233144, rs1064793000, rs1064793001, rs767689418, rs1064793002, rs1060505042, rs748014296, rs62636260, rs1064793289, rs1064795279, rs200712760, rs1064795047, rs1064793506, rs1064793745, rs137954284, rs762150575, rs559155109, rs769671323, rs61755776, rs1064796020, rs199740930, rs1064794848, rs139842473, rs1064794342, rs1064794573, rs778884136, rs777849213, rs1555558169, rs1064797113, rs1064797133, rs1064797134, rs770011113, rs1064797215, rs4672457, rs1064797304, rs773065850, rs1064797364, rs1064797365, rs1085307446, rs1085307972, rs1085307968, rs62645747, rs753886165, rs1555962831, rs1556313552, rs140451304, rs539192853, rs749702843, rs752762669, rs1553449458, rs776788104, rs1553260517, rs145282040, rs773914330, rs757740068, rs1003869920, rs1553252388, rs762388072, rs762159022, rs1362058696, rs1553257498, rs1553257685, rs1288381992, rs1285853856, rs1388040238, rs1553263639, rs751111524, rs1553273280, rs1553274531, rs1035024403, rs746551311, rs780308389, rs1338169194, rs772808534, rs199683808, rs778234759, rs1553188588, rs1553192726, rs764759172, rs541717028, rs746238212, rs1553513437, rs569826109, rs367658438, rs1178184685, rs1553354861, rs754995805, rs770339774, rs1553681348, rs1553687058, rs1553780837, rs1553781176, rs771054395, rs201644238, rs780697796, rs745413794, rs567961453, rs781003757, rs370898371, rs1360937549, rs1553812554, rs753942596, rs144484128, rs146591309, rs773278338, rs1554338016, rs1554268546, rs1554269053, rs1554194404, rs1346842287, rs1554204963, rs1554152094, rs181169439, rs1554183432, rs1554183440, rs930421180, rs1291867456, rs1554214453, rs760798455, rs764163418, rs765129639, rs1554519533, rs1554519538, rs1554519546, rs1554519554, rs1554519555, rs1554519577, rs1554519635, rs1449723475, rs1554519651, rs769601671, rs1554520068, rs1554671407, rs756678484, rs1477733493, rs1555099048, rs1555050487, rs756632517, rs781670422, rs1555302710, rs766096417, rs377257254, rs773372123, rs756806434, rs1555488069, rs1555488573, rs760373259, rs1352458826, rs1555493707, rs750620302, rs189234741, rs752997229, rs1555801989, rs1555791188, rs1555793207, rs1555794302, rs748531024, rs1555961832, rs1555961849, rs1555961852, rs1555961964, rs1555962965, rs1555964122, rs1555964133, rs771039023, rs1555965653, rs1555965712, rs1555968526, rs1556318627, rs1556318633, rs1555468632, rs1555794509, rs1461319754, rs1555049194, rs1555468920, rs1231250334, rs1555792879, rs1555793828, rs1233480483, rs1161389116, rs1554090012, rs1554125521, rs1554417054, rs1554519822, rs1555961624, rs559371453, rs1555487977, rs1441549097, rs758052634, rs1553121073, rs758593134, rs1554289078, rs1553122926, rs764831063, rs754768875, rs374268850, rs1420628245, rs1553781140, rs1555961677, rs1555961787, rs1369414978, rs1366496013, rs774573692, rs534534437, rs769838859, rs777678022, rs753090404, rs201730567, rs199679165, rs143344549, rs777465132, rs1554163929, rs751176116, rs1553454799, rs564754426, rs1553250072, rs141672841, rs1553354826, rs201823777, rs1419157426, rs1553261478, rs1553253747, rs1309140887, rs776886395, rs1553681433, rs1553687118, rs370758397, rs1278053918, rs1555965107, rs1555474009, rs1423102192, rs1553515435, rs753994107, rs1554269081, rs769512989, rs1239043055, rs1555794205, rs1553272035, rs1555216730, rs1555550617, rs1553354522, rs748847284, rs1433546528, rs1555968248, rs1555968524, rs1556318642, rs1553263572, rs199636364, rs765476745, rs768161313, rs1553252499, rs763463859, rs1553248234, rs1553250192, rs1553252041, rs1177257719, rs1212608410, rs200871041, rs1553248216, rs757676723, rs747160949, rs764917754, rs1295968274, rs1553261898, rs1553250416, rs764182950, rs753505333, rs747063294, rs1553249294, rs1553252052, rs367674026, rs779572631, rs1553257707, rs746447649, rs1553268562, rs1553271002, rs1431048303, rs749452910, rs1553273330, rs1553274448, rs779716464, rs1553257705, rs1485173724, rs1553261372, rs1553250050, rs111033382, rs1553285919, rs1553287118, rs1553250150, rs1553299079, rs1162305984, rs199782530, rs370327669, rs944675223, rs769001387, rs199982344, rs1553313308, rs1553261479, rs988693758, rs1553313793, rs760302201, rs1553271001, rs1553313810, rs1414935620, rs749726310, rs1380261595, rs770383273, rs993185407, rs483353054, rs1553273412, rs1553273421, rs1269642027, rs1553268582, rs762608746, rs780779563, rs1553287070, rs1553294144, rs772124060, rs1553270954, rs1553259179, rs1553258122, rs775293551, rs1553272201, rs754374132, rs1553300016, rs1553274424, rs1553300558, rs772100045, rs771051185, rs1553272176, rs143521854, rs1553300340, rs745350407, rs756623509, rs764797292, rs1284826852, rs767078782, rs1342455785, rs1553320451, rs1177198729, rs372927796, rs1553250627, rs1394737087, rs768813865, rs748961218, rs771583281, rs1188025733, rs868562952, rs762384558, rs758571672, rs1553250952, rs1171672823, rs758303489, rs1553257761, rs1484339054, rs1553258097, rs1553258037, rs781223647, rs1187839124, rs767414973, rs376155416, rs1326370032, rs1427770112, rs528919874, rs764229134, rs750840208, rs752736741, rs1165454778, rs1554220416, rs751629543, rs1554171033, rs763028732, rs1168101857, rs747240928, rs1207247951, rs1555454566, rs199830550, rs192907397, rs1429137932, rs1558049084, rs1558151555, rs748983904, rs1057518826, rs1558366840, rs1212998897, rs746141070, rs1560121685, rs1560122302, rs1560134806, rs868349465, rs1562079314, rs1562109990, rs1562140604, rs1562154478, rs749410700, rs1246397238, rs1563329888, rs1563330595, rs1563983151, rs1566561006, rs1566888340, rs1566585766, rs1566945534, rs777989874, rs771551785, rs1568600184, rs1569235677, rs1569237206, rs1569238659, rs1569258901, rs767797828, rs1262416703, rs776591659, rs1557447255, rs747393487, rs140039128, rs1160669210, rs1569257917, rs745422941, rs988133284, rs766053952, rs748369458, rs1558251742, rs1559100465, rs281865520, rs776526721, rs777103184, rs1318739667, rs1471994744, rs1562481438, rs1562263385, rs778627080, rs758660532, rs41314534, rs1301139848, rs777629750, rs970990957, rs1466666397, rs779334655, rs1558146243, rs1569236971, rs1569237077, rs775957498, rs1566560531, rs1558112968, rs552517556, rs777215595, rs373203896, rs752930400, rs1569235999, rs779169631, rs1560046837, rs776727320, rs767994904, rs772057239, rs186643840, rs779983752, rs1562220891, rs1428612396, rs200862689, rs530749007, rs200248198, rs150412614, rs1360258103, rs1573592033, rs1578278438, rs1197105310, rs1582928662, rs777889289, rs1602347992, rs781705903, rs1571572235, rs1571945537, rs201238640, rs1571953381, rs1453306308, rs201863550, rs1571941465, rs1571941589, rs753908845, rs1572060087, rs771000800, rs1570382663, rs772421550, rs1572826522, rs959069360, rs1578278354, rs768210562, rs1578281136, rs766357803, rs750147338, rs1577296602, rs1581180469, rs1581190641, rs1265680220, rs976670244, rs1581312596, rs1581697849, rs753314164, rs61755811, rs748838955, rs1582221424, rs74419361, rs777482895, rs1582376609, rs1468020897, rs1585557752, rs1585563087, rs1250214380, rs1585563204, rs1585563965, rs1585564175, rs879399888, rs1585567204, rs368489658, rs1594866237, rs759339012, rs1595956455, rs1595956595, rs1365926616, rs775887058, rs1596974169, rs1596996962, rs1600341902, rs1600341931, rs1600355373, rs1600355502, rs1600360338, rs1600360654, rs1601891936, rs1601891967, rs1601892395, rs1601926125, rs1601943227, rs1601943268, rs1601943462, rs1602347792, rs1602349705, rs1603288875, rs754970095, rs1573592124, rs1573607809, rs1578097528, rs781377291, rs781616522, rs1581211727, rs1432643009, rs1167742176, rs1562998089, rs1422250479, rs762276925, rs1596976316, rs1600340117, rs1057520752, rs1601890980, rs62638627, rs1602653742, rs1571523755, rs1571525390, rs140260219, rs1571623023, rs1571170561, rs754899711, rs1572934951, rs1578491064, rs1578860254, rs1302809734, rs1581744084, rs1582764878, rs1584179629, rs1585561400, rs1591277785, rs762326108, rs777420525, rs1238109100, rs62638648, rs1576623563, rs1589420011, rs1597331616, rs201205811, rs763324776, rs770984400, rs760858249, rs748863844, rs770329105, rs772748858, rs1187991259, rs1281095503, rs1231668679, rs767882032, rs1225304963, rs371032798, rs1345460401, rs200387832, rs1293202153, rs1574426870, rs776204925, rs758899480, rs1582079626, rs776564041, rs1602190224, rs751413984, rs769723975, rs1584799745, rs776206391, rs1300041533, rs747512450, rs1571158279, rs561075447, rs1571878277, rs745348555, rs1571557864, rs1450635782, rs62635649, rs1571783742, rs759433119, rs1415484067, rs1415157305, rs752058510, rs1573613491, rs774577413, rs778383770, rs746291728, rs1003615909, rs1578278088, rs1578278417, rs371288618, rs1578281565, rs1578281706, rs373680665, rs1355802816, rs745704627, rs374017889, rs1037963003, rs1577301589, rs1577311264, rs1581164958, rs375659222, rs769824975, rs1582140331, rs902462590, rs983691310, rs1562079278, rs1305702728, rs928803207, rs1583260302, rs1583277585, rs1391928253, rs1583442540, rs1582176424, rs760283610, rs770659908, rs1585564369, rs1246790145, rs1589337745, rs888090139, rs1596997875, rs1597223214, rs1600324262, rs1600324442, rs1439576531, rs1600335289, rs1600337158, rs764232082, rs1600350656, rs1601917999, rs1601922202, rs1601923813, rs1601924184, rs1601947074, rs1601961064, rs1601974881, rs1601978817, rs1601978823, rs1601978925, rs1601982532, rs1602347637, rs1602355025, rs1600334904, rs1572027164, rs111033408, rs1571703801, rs1572827477, rs755429480, rs1600335148, rs1254494198, rs1601922877, rs1601924111, rs1589590737, rs1573627154, rs1573638426, rs778005207, rs1424131846, rs1582929649, rs1572263404, rs1582139965, rs1571848659, rs1571848744, rs1571524269, rs768905244, rs1571540258, rs760544654, rs1571681377, rs1571715796, rs768158580, rs368687374, rs1571805235, rs1557600322, rs1571253050, rs779743222, rs1574489337, rs1285501658, rs369937337, rs774215025, rs1572829514, rs1572875669, rs1316281505, rs1578279746, rs1578280574, rs1578280588, rs377600857, rs1575415957, rs1293620319, rs1578059695, rs759079269, rs1560621807, rs1577288305, rs1581164936, rs1581166539, rs1581217626, rs1581727126, rs1581738478, rs763272975, rs375978676, rs1582139184, rs1582139308, rs1168129071, rs1582146096, rs1582930081, rs1582932583, rs749103801, rs1582376398, rs1584728115, rs1585559122, rs1585563283, rs1585563328, rs1587620892, rs794726954, rs1589313739, rs1594214013, rs1371805993, rs1594224781, rs1594280914, rs1594246708, rs1594867516, rs1594867597, rs776270511, rs1595957521, rs1028371920, rs1597445687, rs1176869304, rs1597340989, rs886276412, rs1479239564, rs1600342032, rs1184467860, rs1555961440, rs1346308311, rs1601920423, rs1601920599, rs1601923388, rs1601923578, rs907856232, rs1601940608, rs281865302, rs1601951704, rs1601972255, rs1601972449, rs1601978991, rs1602342597, rs1602347786, rs1602347851, rs1276597208, rs1577301137, rs1561671507, rs1595009158, rs1597951232, rs1600342050, rs1602071514, rs1601931052, rs1602342663, rs1658062720, rs1653548589, rs1659645978, rs1659651471, rs1660519681, rs1664301074, rs771257822, rs1656419435, rs1656646424, rs754834155, rs948087886, rs755099565, rs1657965422, rs1657992030, rs1657996197, rs1386612395, rs1660298900, rs764113446, rs1259758261, rs1664490756, rs1667316070, rs1421761057, rs2032462132, rs758733024, rs2036149054, rs2039692173, rs1659900155, rs1659902823, rs1660937747, rs1661098509, rs1676223605, rs1676864299, rs748204331, rs1671239184, rs1706625164, rs1706833794, rs1707008452, rs2058802102, rs1717541693, rs1738719686, rs867483436, rs1734061767, rs1736425011, rs1736426982, rs1737229618, rs1737442897, rs1761073125, rs1752838269, rs1754418004, rs1773160727, rs986748364, rs1761908297, rs1488052513, rs1769471082, rs1455826633, rs1766367970, rs1300490966, rs1768038999, rs368159852, rs1766217655, rs1286660951, rs1238921380, rs1784160131, rs886210482, rs1806033536, rs1806033844, rs1806128576, rs1205613982, rs1830219226, rs777019428, rs1555210929, rs1836974640, rs1856758582, rs2036808766, rs1163040913, rs745934202, rs1257334132, rs2054205040, rs2051588436, rs2074970792, rs2073701678, rs2073702243, rs2073704298, rs2073708638, rs2073818085, rs1411470197, rs2073962058, rs2073962186, rs2073964950, rs1314226094, rs2073970897, rs2073971805, rs2067117666, rs2067124487, rs2067127275, rs2067159265, rs2067175855, rs2067180233, rs1854473658, rs2067185063, rs2067191541, rs2067192032, rs2067193671, rs2067194747, rs2067198376, rs2067203546, rs1601943325, rs2067498051, rs2067562201, rs2067845149, rs2067985165, rs2067987832, rs1924521431, rs1924897691, rs1924907742, rs1925391988, rs2037140260, rs2031451980, rs1358947010, rs1470798497, rs1601920131, rs34713174, rs1571948114, rs774677256, rs1581186849, rs1601920532, rs1578280614, rs1601951595, rs1585959862, rs748984657, rs1585963931, rs1572879569, rs201070350, rs1571805164, rs768445391, rs1044562973, rs1572829010, rs768837125, rs1582249186, rs1585569717, rs151141842, rs1600356790, rs778731851, rs369184026, rs1665487563, rs1657798642, rs771260365, rs750321557, rs767328784, rs1662880750, rs1424639717, rs1664846292, rs1667471296, rs769609970, rs2032072206, rs201529124, rs2034899784, rs1364987785, rs1191816747, rs780007963, rs1487540503, rs188492864, rs1688308445, rs1476585944, rs769632183, rs748396645, rs772325487, rs769445913, rs1673040470, rs2063883437, rs2084776162, rs2084776365, rs777851867, rs772867912, rs1476546899, rs145605739, rs759537984, rs141252097, rs754916169, rs748972748, rs1166245419, rs771640639, rs1768367412, rs764362221, rs1050742628, rs1299355731, rs184722374, rs1477705832, rs1561965266, rs761760327, rs1245304444, rs1431710414, rs1767601438, rs1764940309, rs1389794536, rs989589885, rs1769936722, rs1765726534, rs780433094, rs1231321479, rs765035454, rs759505780, rs774264204, rs1924904597, rs776014770, rs1662191792, rs1228475082, rs1772614934, rs1193854376, rs748946491, rs767630412, rs746128841, rs748977292, rs1767600988, rs1769267226, rs373232101, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664671663, rs1558138741, rs1656646221, rs1485393201, rs1657976232, rs1657992342, rs1657997730, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1665132445, rs755032078, rs2032459600, rs769198746, rs2034852728, rs2036054600, rs757154662, rs766370703, rs2038566220, rs1195779037, rs2039690812, rs1362964563, rs1242866408, rs775776288, rs1278226911, rs1238123416, rs1689010156, rs200711686, rs1667504255, rs753619551, rs1558490060, rs866543181, rs770399625, rs1472199114, rs764109533, rs1415160298, rs2084785435, rs1402468701, rs984572250, rs768694789, rs1237954156, rs1737429976, rs373037737, rs759563967, rs751589956, rs774204108, rs1409801782, rs1768346880, rs772549804, rs1431427428, rs1770904723, rs909730457, rs1245121527, rs1767699695, rs1295206142, rs746499646, rs1766006937, rs779372264, rs749460193, rs371886218, rs1488237523, rs1806079331, rs1489149705, rs955766374, rs1210263161, rs2073701307, rs2073926924, rs1342475527, rs2067114709, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067176160, rs2067176379, rs1373833359, rs1601922510, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs762837543, rs760287363, rs1235430504, rs1371160062, rs2031604509, rs1558244152, rs2034951427, rs912980910, rs1662599697, rs1005130980, rs1334444660, rs898144119, rs1383907349, rs1753232409, rs1769469813, rs1961362638, rs2073798309, rs2073961843, rs1836931186, rs1661659605, rs1645824187, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1656942613, rs1347261858, rs1685567937, rs1667513233, rs1805984836, rs2073842959, rs2067140574, rs2067148119, rs2067166789, rs2067179633, rs2067200470, rs1924900389, rs2034938852

Unknown
Disease name	Disease term	dbSNP ID	References
Cytochrome-c oxidase deficiency	Cytochrome-c Oxidase Deficiency	rs28461189, rs267606883	26685157
High palate	Byzanthine arch palate
Isolated cytochrome c oxidase deficiency	Isolated cytochrome C oxidase deficiency
Motor delay	Clumsiness - motor delay
Phosphate diabetes	Phosphate Diabetes
Ptosis	Blepharoptosis, Ptosis	rs139920573
Renal tubular disorder	Renal tubular disorder