GARS1 (glycyl-tRNA synthetase 1)

Gene

• Entrez ID: 2617
• Gene name: Glycyl-tRNA synthetase 1
• Gene symbol: GARS1
• Synonyms: CMT2D, DSMAV, GARS, GlyRS, HMN5, HMN5A, HMND5, SMAD1, SMAJI
• Chromosome: 7
• Chromosome location: 7p14.3
• Summary: This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs77518956	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs137852643	G>C	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs137852644	T>C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs137852645	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs137852646	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs137852647	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs137852648	C>T	Pathogenic	Missense variant, coding sequence variant
rs183573304	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs192443850	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs200279483	A>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200887429	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, 5 prime UTR variant
rs201358272	C>G,T	Pathogenic, uncertain-significance, benign	Missense variant, coding sequence variant
rs370057212	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs370608239	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs376324026	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	Intron variant
rs376772628	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs762624758	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, 5 prime UTR variant
rs797044855	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs863224873	A>C,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886043231	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1057519166	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant
rs1060502838	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1060502839	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795123	T>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1135401747	AGAA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1135401748	G>A	Pathogenic	Missense variant, coding sequence variant
rs1554337974	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554338260	A>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554338262	T>A	Pathogenic	Coding sequence variant, missense variant
rs1554338272	G>A	Pathogenic	Splice donor variant
rs1554340340	G>A	Pathogenic	Splice donor variant
rs1584026191	G>C	Likely-pathogenic	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004081	Function	Bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity	IDA	19710017
GO:0004820	Function	Glycine-tRNA ligase activity	IBA	21873635
GO:0004820	Function	Glycine-tRNA ligase activity	IDA	17544401, 17545306, 19710017
GO:0004820	Function	Glycine-tRNA ligase activity	IMP	28675565
GO:0005515	Function	Protein binding	IPI	17545306, 17595294, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006418	Process	TRNA aminoacylation for protein translation	IMP	28675565
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006426	Process	Glycyl-tRNA aminoacylation	IBA	21873635
GO:0015966	Process	Diadenosine tetraphosphate biosynthetic process	IDA	19710017
GO:0016740	Function	Transferase activity	IEA
GO:0030424	Component	Axon	IDA	17035524
GO:0042802	Function	Identical protein binding	IPI	17545306, 17595294
GO:0046983	Function	Protein dimerization activity	IDA	17544401, 17545306
GO:0070062	Component	Extracellular exosome	ISS
GO:0070150	Process	Mitochondrial glycyl-tRNA aminoacylation	IBA	21873635

Other IDs

• MIM: 600287
• HGNC: 4162
• e!Ensembl: ENSG00000106105

Protein

• UniProt ID: P41250
• Protein name: Glycine--tRNA ligase (EC 6.1.1.14) (Diadenosine tetraphosphate synthetase) (Ap4A synthetase) (EC 2.7.7.-) (Glycyl-tRNA synthetase) (GlyRS) (Glycyl-tRNA synthetase 1)
• Protein function: Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP) (PubMed:17544401, PubMed:24898252, PubMed:28675565). Also produces diadenosine tetraphosphate (
• PDB: 2PME, 2PMF, 2Q5H, 2Q5I, 2ZT5, 2ZT6, 2ZT7, 2ZT8, 2ZXF, 4KQE, 4KR2, 4KR3, 4QEI, 5E6M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00458	WHEP-TRS	67 → 117	WHEP-TRS domain	Domain
  PF00587	tRNA-synt_2b	291 → 592	tRNA synthetase class II core domain (G, H, P, S and T)	Domain
  PF03129	HGTP_anticodon	615 → 709	Anticodon binding domain	Domain

• Sequence:

  MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGA
  EEVLAPLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVD
  RAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDC
  TMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSDKKCSVEKKSEME
  SVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPET
  AQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEK
  DHPKFQNVADLHLYLYSAKAQVSGQSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKV
  GISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPL
  VAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLLNEKGEF
  TIETEGKTFQLTKDMINVKRFQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDE
  QRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKELSEALTRHGVSHKVDDSSGSIGRRYAR
  TDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQIRAEISELPSIVQDLANGNITWADVE
  ARYPLFEGQETGKKETIEE

• Sequence length: 739

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Cytosolic tRNA aminoacylation
Mitochondrial tRNA aminoacylation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Charcot-marie-tooth disease	Charcot-Marie-Tooth disease, Type 2D	rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295, rs28940296, rs119103261, rs119103262, rs119103263, rs119103265, rs119103266, rs119103267, rs119103268, rs80338924, rs80338932, rs80338933, rs80338934, rs104894351, rs104894345, rs120074137, rs120074138, rs120074139, rs104894075, rs104894076, rs104894077, rs28937906, rs104894078, rs104894079, rs104894080, rs121908114, rs587777608, rs758843908, rs137852972, rs137852973, rs137852975, rs121908160, rs104894714, rs104894715, rs104894706, rs104894707, rs104894708, rs119482081, rs119482083, rs119482082, rs121912632, rs121912633, rs77975504, rs121912637, rs267607143, rs267607144, rs267607145, rs267607146, rs119483085, rs113994102, rs606231157, rs606231158, rs104894519, rs104894520, rs104894521, rs104894522, rs111033171, rs137853022, rs28939712, rs121908833, rs121908834, rs786200893, rs121434402, rs121434403, rs121434404, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs267606772, rs121909078, rs121909079, rs28939680, rs29001571, rs28937568, rs28937569, rs28939681, rs104894020, rs121909112, rs267607194, rs587776688, rs104894617, rs104894618, rs104894620, rs104894621, rs104894622, rs104894623, rs80338763, rs104894626, rs104894627, rs28936682, rs104894625, rs267606621, rs137852665, rs137852666, rs786205089, rs137852669, rs137852643, rs137852644, rs137852646, rs199476138, rs80338732, rs104894810, rs104894811, rs104894812, rs104894814, rs104894818, rs104894819, rs104894821, rs104894822, rs104894824, rs267606672, rs28933979, rs121918070, rs121918071, rs76992529, rs59443585, rs28928910, rs60261494, rs62636505, rs121913663, rs121913583, rs121913584, rs121913585, rs121913586, rs2102257349, rs121913587, rs121913588, rs121913589, rs121913590, rs121913594, rs121913595, rs121913596, rs121913597, rs121913598, rs121913599, rs121913601, rs121913602, rs121913603, rs1558154193, rs58932704, rs57520892, rs28933091, rs28933092, rs60864230, rs57920071, rs61282106, rs61672878, rs58596362, rs28933093, rs58048078, rs121912496, rs60458016, rs121909721, rs121909723, rs121909724, rs104894159, rs104894161, rs121434563, rs267607148, rs267607149, rs387906324, rs116840818, rs116840819, rs116840815, rs116840822, rs116840821, rs137852736, rs137852738, rs80338922, rs80338925, rs80338926, rs80338929, rs80338931, rs80338936, rs80338937, rs80338921, rs267607243, rs199473690, rs199422214, rs387906738, rs606231229, rs387906902, rs387906904, rs387906905, rs1555365597, rs387906990, rs387906991, rs387907032, rs786200930, rs387907035, rs387907036, rs387907037, rs387907038, rs387907242, rs386134243, rs267607578, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs281865060, rs63749871, rs397514494, rs397514534, rs606231237, rs397515432, rs281865136, rs281865137, rs281865121, rs281865123, rs281865124, rs281865125, rs281865128, rs267607247, rs281865134, rs281865135, rs58982919, rs1564287793, rs387907340, rs387907341, rs397517888, rs397517889, rs57508089, rs58013325, rs56984562, rs267607646, rs58917027, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397515441, rs397515442, rs786200937, rs587776986, rs397509411, rs397509412, rs397515454, rs397515455, rs61295588, rs62636503, rs61491953, rs58332872, rs267607555, rs267607644, rs267607617, rs267607567, rs267607634, rs267607575, rs267607590, rs267607545, rs57983345, rs267607620, rs267607618, rs267607577, rs58541611, rs267607637, rs267607598, rs267607638, rs267607597, rs267607599, rs267607550, rs267607552, rs58100028, rs57629361, rs267607592, rs267607581, rs61444459, rs56793579, rs59270054, rs59040894, rs267607569, rs60652225, rs61661343, rs267607570, rs267607542, rs59026483, rs267607571, rs80356807, rs267607584, rs267607609, rs57207746, rs267607587, rs58327533, rs59332535, rs61578124, rs267607632, rs59914820, rs267607591, rs59684335, rs267607645, rs60872029, rs267607614, rs59301204, rs587777063, rs587777838, rs515726153, rs515726154, rs515726162, rs587780564, rs587777606, rs587777877, rs587777878, rs587777876, rs587777875, rs587777880, rs587777715, rs199927590, rs587781250, rs587783595, rs587783596, rs587783597, rs587783598, rs713993043, rs372000714, rs724159994, rs724159959, rs111569862, rs730882139, rs730882140, rs781140315, rs786204003, rs786204215, rs786204119, rs786204095, rs786204123, rs786205157, rs786205207, rs191346286, rs794727035, rs756928158, rs797044758, rs794728598, rs794728604, rs794728589, rs794728597, rs794728606, rs794728593, rs794728610, rs267607623, rs1553265865, rs794728613, rs794729198, rs756880678, rs797044802, rs797044803, rs796052862, rs797044845, rs797045102, rs797044941, rs797044913, rs797044901, rs797044918, rs797045177, rs797045039, rs863224069, rs863224074, rs777604559, rs782490558, rs782190413, rs863224842, rs863224449, rs863224520, rs863224454, rs863224781, rs776221160, rs863224516, rs863224472, rs863224613, rs779696968, rs863224471, rs863224969, rs863224970, rs863224967, rs863224968, rs863225025, rs371856018, rs770546306, rs377357931, rs863225022, rs863225023, rs745663149, rs863225029, rs863225028, rs863225027, rs754521978, rs863224971, rs863224974, rs863224972, rs863224973, rs139643362, rs746581714, rs780594709, rs143473232, rs863225122, rs863225123, rs863225124, rs756614404, rs782726390, rs864309500, rs864309501, rs864309502, rs864309503, rs864309504, rs864309526, rs864309525, rs864309709, rs864309705, rs864622480, rs864622732, rs864622664, rs370115218, rs864622663, rs770272088, rs864622501, rs864622273, rs864622678, rs864622180, rs864622215, rs876657411, rs876657412, rs749850181, rs876661208, rs145226920, rs775019409, rs876661252, rs876661269, rs28933090, rs878855234, rs878855092, rs138226428, rs757563721, rs1057519023, rs879253751, rs879253752, rs1057519024, rs765591205, rs879253755, rs879253777, rs879253861, rs763492075, rs879253863, rs879253859, rs879253869, rs879253858, rs879253957, rs879254011, rs879253939, rs879253932, rs879254081, rs879254054, rs879254109, rs760730366, rs879253926, rs747768373, rs879254290, rs879253927, rs770501034, rs201060167, rs368775789, rs879254085, rs879253881, rs757725348, rs879253954, rs121909093, rs879254086, rs773009397, rs879253919, rs879254047, rs879254012, rs879253935, rs879254096, rs756000896, rs879253946, rs879254098, rs879253909, rs879254099, rs886037934, rs764717219, rs886039361, rs886039755, rs886041051, rs886041386, rs886041200, rs886043109, rs886043774, rs766160589, rs772320287, rs753207473, rs876661155, rs762730861, rs749890533, rs1057517987, rs1057518021, rs774799167, rs267607087, rs1057517942, rs1057518083, rs773690764, rs1057518961, rs80338930, rs375401970, rs104894624, rs1057520778, rs1060501918, rs879254210, rs1060501925, rs1060501920, rs1060501915, rs1060502215, rs1060502210, rs1060502214, rs1060502211, rs1060503423, rs1060503418, rs1060503420, rs1553259651, rs1060502838, rs538412810, rs1060500979, rs1060502839, rs1060503021, rs1060500978, rs1060503092, rs759312530, rs756461496, rs749558026, rs1060499999, rs1555057316, rs1060500001, rs778377449, rs1060501904, rs781347519, rs906563423, rs1060501002, rs1060500998, rs1555937150, rs1060501004, rs1060501000, rs1064794316, rs1064795818, rs886044113, rs749361266, rs750529207, rs776005417, rs770043095, rs1064796370, rs1064795077, rs1064793771, rs747912710, rs1064795696, rs751035912, rs1064796765, rs1064795664, rs1064793101, rs1064796495, rs1064794244, rs60290646, rs1064797314, rs1085307888, rs749320057, rs772823083, rs1131691980, rs1131691852, rs1131691657, rs1131691322, rs200435950, rs1395068713, rs1553765316, rs1555938796, rs1553265433, rs780302064, rs515726215, rs1247055716, rs1554614680, rs1553259697, rs1429859627, rs764928653, rs1555937009, rs1556300610, rs1556300621, rs572010627, rs759785462, rs1554122541, rs745790694, rs1422978230, rs771606350, rs1555800610, rs1555937020, rs1555937122, rs1555937197, rs1555937233, rs1555937270, rs759844257, rs1458700065, rs1553259663, rs765231758, rs1554122847, rs1323153568, rs773598203, rs1555937180, rs1553141686, rs1553142436, rs1553146559, rs778937659, rs1553261891, rs1553265165, rs1553265660, rs267607557, rs1553259648, rs1553265455, rs1553266024, rs267607588, rs1553259649, rs1553259703, rs1553259511, rs1553259662, rs1463859150, rs1198337036, rs1554121691, rs1064795123, rs1554338260, rs150110356, rs1554337974, rs747659617, rs1554548334, rs1554763017, rs1221804567, rs556827873, rs1554762671, rs760386662, rs1554982914, rs1327664377, rs1555373599, rs1555715869, rs1555936999, rs1555937084, rs1555937135, rs1555937194, rs1555937218, rs1555937015, rs1555937223, rs1553851490, rs753287764, rs774294963, rs991227431, rs1553174566, rs1553265755, rs763937206, rs1555937143, rs1553264668, rs57730570, rs1555381416, rs1555937168, rs113055360, rs1202430946, rs1266361856, rs530391015, rs1553143890, rs1553146551, rs1553142428, rs1064793170, rs1553144086, rs1553261855, rs1553261982, rs1553264593, rs747711259, rs1553143165, rs1553265328, rs1553265342, rs1553265647, rs1553265760, rs1553259566, rs1553259643, rs1407955132, rs1553259683, rs1553259691, rs1553265606, rs1553265924, rs1553259790, rs1222150652, rs773554464, rs1554121665, rs1554122560, rs1554120331, rs1554300952, rs1554303800, rs557327165, rs1554338262, rs1554338641, rs757417962, rs1554754342, rs1554547986, rs1345228128, rs1554753670, rs1554763035, rs779654686, rs1289139464, rs1555060614, rs1555061026, rs1358449243, rs1555223595, rs1555540896, rs1426969421, rs1555568475, rs1301129751, rs1555936989, rs1555937082, rs1241595912, rs1554120215, rs1553190285, rs1553192091, rs1553192086, rs1554107200, rs1553259707, rs1555060024, rs1555542415, rs1385904344, rs104894598, rs1553265736, rs1565929090, rs1000091588, rs1557537223, rs1557522794, rs1557524703, rs1340894696, rs1558133157, rs1017715903, rs1558115754, rs1558115970, rs267607561, rs1558154644, rs1557522849, rs1557525153, rs1557539119, rs1228406418, rs1558133435, rs1558153994, rs1558154754, rs376054085, rs1557525005, rs1557537346, rs1558154010, rs761972717, rs1561764735, rs1561765311, rs763949764, rs766728475, rs1561764925, rs1561770798, rs375431837, rs751448371, rs1270869520, rs770111639, rs751292488, rs1565115957, rs761035569, rs1183978180, rs750712213, rs1554309093, rs746455518, rs1564872328, rs752649372, rs1393673267, rs1565351898, rs749012928, rs866662905, rs1567704791, rs752192677, rs774667470, rs1564923441, rs746903992, rs1569215025, rs1569215351, rs771022595, rs1567019064, rs574861276, rs1569215061, rs1567604571, rs1569215346, rs1568710514, rs1569214985, rs1555937166, rs1564287871, rs1557525000, rs1558154149, rs1567698872, rs757937208, rs1568704829, rs138199394, rs1565869918, rs1565942358, rs1566778676, rs1563518388, rs1563518390, rs1564557037, rs1559961997, rs1559963660, rs1561764569, rs762729182, rs199615251, rs1476856429, rs1567704621, rs763758904, rs1569215443, rs1565342506, rs1571818248, rs140992482, rs1566439723, rs1182353109, rs1561770179, rs1569512576, rs869125101, rs1568708792, rs912928648, rs267607629, rs1572364243, rs1569816285, rs863224068, rs1569829894, rs1569830013, rs1569842143, rs1440006845, rs1569842714, rs1569843694, rs755065651, rs1553143852, rs1569854012, rs1569854342, rs1569868729, rs1569871830, rs375937289, rs1569889919, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571817146, rs1571817154, rs1571817911, rs1571817966, rs1571818312, rs1571818632, rs1456458087, rs1571818800, rs1571818819, rs1468741050, rs1571819182, rs573007540, rs1571819890, rs1571819906, rs201720099, rs1571819946, rs1571819964, rs1571819975, rs1571820143, rs1180998665, rs1571820186, rs1427063795, rs121909080, rs1580682390, rs1028404937, rs1580889866, rs147895061, rs1174949678, rs757797985, rs1580900758, rs1580901350, rs775740308, rs776090013, rs1197741113, rs1191997383, rs1554337369, rs1301948344, rs1583964560, rs1240900244, rs1583966508, rs778547659, rs1586795216, rs1586803063, rs1586803273, rs1443963090, rs1586804849, rs770658701, rs1586807387, rs1588143215, rs1589080524, rs1303837541, rs199839840, rs1590968942, rs1032796987, rs1595599240, rs1595600898, rs1555408333, rs1595163736, rs1595163851, rs1595164091, rs1594986869, rs1595430425, rs1597597534, rs1555564040, rs1597597678, rs1597597900, rs1597607532, rs11545341, rs1597608057, rs1597608086, rs1597608203, rs1597635540, rs1269225724, rs1599651549, rs1210729449, rs757771239, rs144183238, rs1599656136, rs768074428, rs753857146, rs1599662837, rs1602348530, rs1602348610, rs1602348650, rs1602348658, rs104894817, rs863224612, rs1602348786, rs1602348794, rs1602348801, rs1602348804, rs1602348820, rs1602348897, rs1602348907, rs1602348917, rs1602348981, rs876661143, rs1602349017, rs1602349021, rs1602349066, rs1602349087, rs1602349095, rs1602349112, rs1602349131, rs1602349137, rs1602349248, rs1602349264, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349451, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1602349655, rs1555937259, rs1602349716, rs1602349730, rs1064795540, rs1602349940, rs1590970875, rs1569834500, rs1569861708, rs1571685736, rs748672380, rs1232901259, rs1571818339, rs1571820401, rs143956557, rs1370011538, rs1597607514, rs1597608225, rs1597633171, rs1580917130, rs1569816194, rs1569834720, rs1569842458, rs1569842483, rs764374251, rs1569865516, rs1569882539, rs1572331707, rs1572332235, rs1572358860, rs1572359991, rs59564495, rs1572362885, rs1572363397, rs1448275854, rs1572366412, rs1572366593, rs1572367812, rs1571820100, rs1279417718, rs1580901363, rs1488999396, rs1584034430, rs1174933176, rs1586803187, rs1417699318, rs1588132672, rs775965001, rs1315010600, rs1588144707, rs1590881633, rs1590974596, rs1590997023, rs1592387932, rs1597435337, rs1597435790, rs1597446183, rs1597448762, rs1597597527, rs756689732, rs1599656507, rs1599662669, rs1555938741, rs1602496057, rs1602348726, rs1602349029, rs1602349341, rs1602350012, rs1572359505, rs113610699, rs1365042239, rs1580891465, rs1586446057, rs1580900150, rs1595597572, rs1590971080, rs776757548, rs1171462240, rs1590974546, rs1572359848, rs267607622, rs1580917136, rs1588143112, rs1599656851, rs1602485728, rs145670786, rs1602499659, rs1586807529, rs1599651726, rs2047850664, rs1588216753, rs1569842296, rs1580900473, rs1580907885, rs1583695322, rs936681187, rs1589439508, rs1590076969, rs1595597963, rs1595608413, rs373682811, rs964195568, rs1602510200, rs1602510214, rs863225270, rs1602961831, rs769429967, rs1586128143, rs1562648414, rs1228223508, rs758183257, rs1009209509, rs146342432, rs1580900970, rs1572366216, rs1190163112, rs1599652316, rs1580889913, rs1639043704, rs1639045345, rs1060501921, rs866604005, rs1639197832, rs201165591, rs1649726768, rs1651352665, rs61235244, rs1651736894, rs1670264356, rs1670288801, rs1670288858, rs121909081, rs201692212, rs1714805406, rs1714910248, rs1754097044, rs1319576439, rs1754425732, rs769986219, rs1778167481, rs1855957969, rs766951637, rs150989205, rs747130246, rs1836370529, rs1863944217, rs1413469900, rs201676628, rs1948089932, rs2047931446, rs1906290133, rs1909248652, rs2073510805, rs2079456028, rs1262031967, rs2092542190, rs2092543211, rs1602349045, rs757808220, rs2092546039, rs1639048523, rs267607640, rs1651598289, rs866895236, rs1950619177, rs1586407193, rs1011200048, rs758718584, rs145183196, rs1960348987, rs2079511684, rs1670263519, rs139052887	26244500, 12690580, 26503042, 17595294, 26633545, 17101916, 20169446, 21737751, 24604904, 17035524, 25168514, 24669931, 17663003, 17544401
Dysautonomia	Hereditary Motor and Sensory-Neuropathy Type II	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995	21737751, 24604904, 17595294, 17035524, 26503042, 25168514, 16014653, 26244500, 17101916, 27008886, 26138142
Polyneuropathy	Polyneuropathy, Motor	rs1597597437
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Distal amyotrophy	Distal amyotrophy	rs1457770815
Limb amyotrophy	Upper limb amyotrophy
Nervous system diseases	Peripheral Nervous System Diseases
Neuronopathy	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V		23279345, 24627108, 12690580, 17035524, 26503042