YARS2 (tyrosyl-tRNA synthetase 2)

Gene

• Entrez ID: 51067
• Gene name: Tyrosyl-tRNA synthetase 2
• Gene symbol: YARS2
• Synonyms: CGI-04, MLASA2, MT-TYRRS, TYRRS
• Chromosome: 12
• Chromosome location: 12p11.21
• Summary: This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11539445	C>A,T	Benign, likely-benign, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs267607180	G>A,C	Pathogenic, likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs372098364	T>C,G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs541554381	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs555093151	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs565781501	->T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice acceptor variant
rs587777213	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777214	G>A,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, synonymous variant
rs587777215	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs745595833	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, synonymous variant
rs762813092	C>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs768344665	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs775256289	->TGATCAGACATGACCTCC	Pathogenic	Inframe insertion, non coding transcript variant, coding sequence variant
rs797045077	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863224270	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224271	C>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224272	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224273	AAT>TC	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307738	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1365700579	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555137047	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031764	hsa-miR-16-5p	Proteomics	18668040
MIRT051361	hsa-let-7f-5p	CLASH	23622248
MIRT045500	hsa-miR-149-5p	CLASH	23622248
MIRT675165	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT675164	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT675163	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT675162	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT675161	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT675160	hsa-miR-3672	HITS-CLIP	23824327
MIRT675159	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT675158	hsa-miR-8055	HITS-CLIP	23824327
MIRT675157	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT675165	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT675164	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT675163	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT675162	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT675161	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT675160	hsa-miR-3672	HITS-CLIP	23824327
MIRT675159	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT675158	hsa-miR-8055	HITS-CLIP	23824327
MIRT675157	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT1498248	hsa-miR-1297	CLIP-seq
MIRT1498249	hsa-miR-1343	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498252	hsa-miR-1976	CLIP-seq
MIRT1498253	hsa-miR-26a	CLIP-seq
MIRT1498254	hsa-miR-26b	CLIP-seq
MIRT1498255	hsa-miR-302a	CLIP-seq
MIRT1498256	hsa-miR-302b	CLIP-seq
MIRT1498257	hsa-miR-302c	CLIP-seq
MIRT1498258	hsa-miR-302d	CLIP-seq
MIRT1498259	hsa-miR-302e	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1498262	hsa-miR-372	CLIP-seq
MIRT1498263	hsa-miR-373	CLIP-seq
MIRT1498264	hsa-miR-3934	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT1498266	hsa-miR-4465	CLIP-seq
MIRT1498267	hsa-miR-4477a	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498270	hsa-miR-4731-5p	CLIP-seq
MIRT1498271	hsa-miR-4757-5p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT1498273	hsa-miR-5095	CLIP-seq
MIRT1498274	hsa-miR-512-3p	CLIP-seq
MIRT1498275	hsa-miR-520a-3p	CLIP-seq
MIRT1498276	hsa-miR-520b	CLIP-seq
MIRT1498277	hsa-miR-520c-3p	CLIP-seq
MIRT1498278	hsa-miR-520d-3p	CLIP-seq
MIRT1498279	hsa-miR-520e	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT1498281	hsa-miR-552	CLIP-seq
MIRT1498282	hsa-miR-626	CLIP-seq
MIRT1557318	hsa-miR-342-3p	CLIP-seq
MIRT1557319	hsa-miR-3680	CLIP-seq
MIRT1557320	hsa-miR-4670-3p	CLIP-seq
MIRT1557321	hsa-miR-4798-3p	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT2150083	hsa-miR-1224-3p	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1557319	hsa-miR-3680	CLIP-seq
MIRT2150084	hsa-miR-3920	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT2150085	hsa-miR-4652-3p	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498271	hsa-miR-4757-5p	CLIP-seq
MIRT2150087	hsa-miR-4762-3p	CLIP-seq
MIRT2150088	hsa-miR-4778-5p	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT2150089	hsa-miR-554	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT2150083	hsa-miR-1224-3p	CLIP-seq
MIRT2370290	hsa-miR-1249	CLIP-seq
MIRT2370291	hsa-miR-146b-3p	CLIP-seq
MIRT2370292	hsa-miR-149	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498255	hsa-miR-302a	CLIP-seq
MIRT1498256	hsa-miR-302b	CLIP-seq
MIRT1498257	hsa-miR-302c	CLIP-seq
MIRT1498258	hsa-miR-302d	CLIP-seq
MIRT1498259	hsa-miR-302e	CLIP-seq
MIRT2370293	hsa-miR-3064-5p	CLIP-seq
MIRT2370294	hsa-miR-3126-3p	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT2370295	hsa-miR-3176	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT2370296	hsa-miR-371-5p	CLIP-seq
MIRT2370297	hsa-miR-371b-5p	CLIP-seq
MIRT1498262	hsa-miR-372	CLIP-seq
MIRT1498263	hsa-miR-373	CLIP-seq
MIRT2370298	hsa-miR-3922-3p	CLIP-seq
MIRT2370299	hsa-miR-4326	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498270	hsa-miR-4731-5p	CLIP-seq
MIRT2370300	hsa-miR-4735-5p	CLIP-seq
MIRT1498271	hsa-miR-4757-5p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT2370301	hsa-miR-4775	CLIP-seq
MIRT2370302	hsa-miR-4794	CLIP-seq
MIRT1498273	hsa-miR-5095	CLIP-seq
MIRT1498274	hsa-miR-512-3p	CLIP-seq
MIRT1498275	hsa-miR-520a-3p	CLIP-seq
MIRT1498276	hsa-miR-520b	CLIP-seq
MIRT1498277	hsa-miR-520c-3p	CLIP-seq
MIRT1498278	hsa-miR-520d-3p	CLIP-seq
MIRT1498279	hsa-miR-520e	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT1498281	hsa-miR-552	CLIP-seq
MIRT2370303	hsa-miR-590-3p	CLIP-seq
MIRT1498282	hsa-miR-626	CLIP-seq
MIRT2397118	hsa-miR-153	CLIP-seq
MIRT2150084	hsa-miR-3920	CLIP-seq
MIRT2397119	hsa-miR-448	CLIP-seq
MIRT2150085	hsa-miR-4652-3p	CLIP-seq
MIRT2150087	hsa-miR-4762-3p	CLIP-seq
MIRT2150088	hsa-miR-4778-5p	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT1498248	hsa-miR-1297	CLIP-seq
MIRT1498249	hsa-miR-1343	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498252	hsa-miR-1976	CLIP-seq
MIRT1498253	hsa-miR-26a	CLIP-seq
MIRT1498254	hsa-miR-26b	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT1498266	hsa-miR-4465	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT1498248	hsa-miR-1297	CLIP-seq
MIRT1498249	hsa-miR-1343	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498252	hsa-miR-1976	CLIP-seq
MIRT1498253	hsa-miR-26a	CLIP-seq
MIRT1498254	hsa-miR-26b	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT1498266	hsa-miR-4465	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	20598274
GO:0000049	Function	TRNA binding	TAS	15779907
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004831	Function	Tyrosine-tRNA ligase activity	IBA	21873635
GO:0004831	Function	Tyrosine-tRNA ligase activity	IDA	15779907, 15840810, 17997975, 20598274
GO:0004831	Function	Tyrosine-tRNA ligase activity	NAS	10810093
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005524	Function	ATP binding	TAS	15779907
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IC	20598274
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	NAS	10810093
GO:0005739	Component	Mitochondrion	TAS	15779907
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006412	Process	Translation	NAS	10810093
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0016604	Component	Nuclear body	IDA
GO:0042803	Function	Protein homodimerization activity	IPI	15779907, 17997975
GO:0043039	Process	TRNA aminoacylation	IBA	21873635
GO:0043039	Process	TRNA aminoacylation	IDA	15779907, 15840810, 17997975
GO:0070184	Process	Mitochondrial tyrosyl-tRNA aminoacylation	IC	15779907
GO:0070184	Process	Mitochondrial tyrosyl-tRNA aminoacylation	IMP	20598274
GO:0072545	Function	Tyrosine binding	IDA	17997975

Other IDs

• MIM: 610957
• HGNC: 24249
• e!Ensembl: ENSG00000139131

Protein

• UniProt ID: Q9Y2Z4
• Protein name: Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) (Tyrosyl-tRNA synthetase) (TyrRS)
• Protein function: Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr).
• PDB: 2PID, 3ZXI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00579	tRNA-synt_1b	71 → 375	tRNA synthetases class I (W and Y)	Family

• Sequence:

  MAAPILRSFSWGRWSGTLNLSVLLPLGLRKAHSGAQGLLAAQKARGLFKDFFPETGTKIE
  LPELFDRGTASFPQTIYCGFDPTADSLHVGHLLALLGLFHLQRAGHNVIALVGGATARLG
  DPSGRTKEREALETERVRANARALRLGLEALAANHQQLFTDGRSWGSFTVLDNSAWYQKQ
  HLVDFLAAVGGHFRMGTLLSRQSVQLRLKSPEGMSLAEFFYQVLQAYDFYYLFQRYGCRV
  QLGGSDQLGNIMSGYEFINKLTGEDVFGITVPLITSTTGAKLGKSAGNAVWLNRDKTSPF
  ELYQFFVRQPDDSVERYLKLFTFLPLPEIDHIMQLHVKEPERRGPQKRLAAEVTKLVHGR
  EGLDSAKRCTQALYHSSIDALEVMSDQELKELFKEAPFSEFFLDPGTSVLDTCRKANAIP
  DGPRGYRMITEGGVSINHQQVTNPESVLIVGQHILKNGLSLLKIGKRNFYIIKWLQL

• Sequence length: 477

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Mitochondrial tRNA aminoacylation

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
Encephalopathy	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION	rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs387906935, rs1563989427, rs387907312, rs387907313, rs397514615, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs75485205, rs794729221, rs368311455, rs796053264, rs796053263, rs796053254, rs796053253, rs80359823, rs794727642, rs796053272, rs80359841, rs375169579, rs747753388, rs863224237, rs863223953, rs864309522, rs864321623, rs200659479, rs864321622, rs369160589, rs878853161, rs879253874, rs879255685, rs886037861, rs879255686, rs886037862, rs753829320, rs879255690, rs886039517, rs769525399, rs776095655, rs886041590, rs1057517515, rs1057517477, rs1057517729, rs1057517822, rs1057518953, rs1057518694, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs368458768, rs1131691330, rs539962457, rs1190703859, rs776874412, rs1417315589, rs1553155986, rs1553156053, rs1553156051, rs1553156069, rs1554523224, rs1553157935, rs1553155973, rs1555202947, rs1555203557, rs1259158687, rs1413339367, rs753161833, rs143595616, rs1285225437, rs1553169629, rs1553169787, rs762366252, rs1553170029, rs1187631754, rs1553169720, rs1479104927, rs1345986424, rs1557646673, rs1565548029, rs80359819, rs563025075, rs1210153519, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs760398697, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1592661973, rs1570590859, rs1570590905, rs1341055534, rs1570592604, rs201966320, rs1645359135, rs751557097, rs752468216, rs80359824, rs1159593580, rs1677398842	17460227, 26604000, 27145208
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Myopathy, lactic acidosis, and sideroblastic anemia	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2	rs267607180, rs104894371, rs104894372, rs587777213, rs11539445, rs587777214, rs587777215, rs372098364, rs797045077, rs745595833, rs869025309, rs779651314, rs1555268564, rs1566148136, rs762813092, rs779193823	30026338, 23918765, 24344687, 22504945, 26633545, 27604308, 24430573, 20598274
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	OPTIC ATROPHY 5 (disorder)	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	27145208
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Sideroblastic anemia	Sideroblastic anemia	rs763817505

Unknown
Disease name	Disease term	dbSNP ID	References
Amyotrophy	Generalized amyotrophy
Bilateral convulsive seizures	Generalized tonic-clonic seizures with focal onset		26604000, 27145208
Cerebellar atrophy	Cerebellar atrophy		26604000, 27145208
Dysphagia	Deglutition Disorders
High palate	Byzanthine arch palate
Limb muscle atrophy	Generalized limb muscle atrophy
Micrognathism	Micrognathism
Mitochondrial diseases	Mitochondrial Diseases		28812649
Mitochondrial myopathy and sideroblastic anemia	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA		22504945, 24430573, 20598274, 24344687
Myoclonic seizures	Generalized myoclonic seizures		27145208, 26604000
Ptosis	Blepharoptosis, Ptosis	rs139920573
Status epilepticus	Status Epilepticus		26604000, 27145208
Strabismus	Strabismus