FKBP10 (FKBP prolyl isomerase 10)

Gene

• Entrez ID: 60681
• Gene name: FKBP prolyl isomerase 10
• Gene symbol: FKBP10
• Synonyms: BRKS, BRKS1, FKBP65, OI11, OI6, PPIASE, TLH1, hFKBP65
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoform

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61749879	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs137853883	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs140027863	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs141387386	G>T	Likely-pathogenic, uncertain-significance	Intron variant
rs372896892	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs387906960	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs387907325	->T	Pathogenic	Frameshift variant, coding sequence variant
rs397509383	CC>A	Pathogenic	Frameshift variant, coding sequence variant
rs397514674	G>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs797044559	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs797044852	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs869025223	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs869320752	TAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs886044880	T>G	Pathogenic	Splice donor variant
rs1555616334	A>G	Pathogenic	Splice acceptor variant
rs1555616552	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs1567855132	->TGATGGAC	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1567856056	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1597905563	G>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1597906442	->GACTTTGTCCGCTACCACTACAATGGCACC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1597907877	A>G	Likely-pathogenic	Splice acceptor variant
rs1597908085	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021739	hsa-miR-132-3p	Microarray	17612493
MIRT021875	hsa-miR-128-3p	Microarray	17612493
MIRT025084	hsa-miR-181a-5p	Microarray	17612493
MIRT051795	hsa-let-7c-5p	CLASH	23622248
MIRT440641	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440641	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT997116	hsa-miR-1224-3p	CLIP-seq
MIRT997117	hsa-miR-1260	CLIP-seq
MIRT997118	hsa-miR-1260b	CLIP-seq
MIRT997119	hsa-miR-1280	CLIP-seq
MIRT997120	hsa-miR-1321	CLIP-seq
MIRT997121	hsa-miR-134	CLIP-seq
MIRT997122	hsa-miR-1470	CLIP-seq
MIRT997123	hsa-miR-1913	CLIP-seq
MIRT997124	hsa-miR-2467-3p	CLIP-seq
MIRT997125	hsa-miR-28-5p	CLIP-seq
MIRT997126	hsa-miR-3118	CLIP-seq
MIRT997127	hsa-miR-3127-3p	CLIP-seq
MIRT997128	hsa-miR-3139	CLIP-seq
MIRT997129	hsa-miR-3194-3p	CLIP-seq
MIRT997130	hsa-miR-324-3p	CLIP-seq
MIRT997131	hsa-miR-3614-3p	CLIP-seq
MIRT997132	hsa-miR-3659	CLIP-seq
MIRT997133	hsa-miR-3678-3p	CLIP-seq
MIRT997134	hsa-miR-3714	CLIP-seq
MIRT997135	hsa-miR-3944-5p	CLIP-seq
MIRT997136	hsa-miR-4290	CLIP-seq
MIRT997137	hsa-miR-4297	CLIP-seq
MIRT997138	hsa-miR-4419a	CLIP-seq
MIRT997139	hsa-miR-4469	CLIP-seq
MIRT997140	hsa-miR-4476	CLIP-seq
MIRT997141	hsa-miR-4510	CLIP-seq
MIRT997142	hsa-miR-4530	CLIP-seq
MIRT997143	hsa-miR-4658	CLIP-seq
MIRT997144	hsa-miR-4667-3p	CLIP-seq
MIRT997145	hsa-miR-4728-5p	CLIP-seq
MIRT997146	hsa-miR-4739	CLIP-seq
MIRT997147	hsa-miR-4756-5p	CLIP-seq
MIRT997148	hsa-miR-4758-5p	CLIP-seq
MIRT997149	hsa-miR-532-3p	CLIP-seq
MIRT997150	hsa-miR-574-5p	CLIP-seq
MIRT997151	hsa-miR-615-5p	CLIP-seq
MIRT997152	hsa-miR-648	CLIP-seq
MIRT997153	hsa-miR-708	CLIP-seq
MIRT997154	hsa-miR-922	CLIP-seq
MIRT997155	hsa-miR-943	CLIP-seq
MIRT997116	hsa-miR-1224-3p	CLIP-seq
MIRT997117	hsa-miR-1260	CLIP-seq
MIRT997118	hsa-miR-1260b	CLIP-seq
MIRT997119	hsa-miR-1280	CLIP-seq
MIRT997120	hsa-miR-1321	CLIP-seq
MIRT997121	hsa-miR-134	CLIP-seq
MIRT997122	hsa-miR-1470	CLIP-seq
MIRT997123	hsa-miR-1913	CLIP-seq
MIRT1995679	hsa-miR-2110	CLIP-seq
MIRT997124	hsa-miR-2467-3p	CLIP-seq
MIRT997126	hsa-miR-3118	CLIP-seq
MIRT1995680	hsa-miR-3150a-3p	CLIP-seq
MIRT1995681	hsa-miR-3162-5p	CLIP-seq
MIRT1995682	hsa-miR-3175	CLIP-seq
MIRT997129	hsa-miR-3194-3p	CLIP-seq
MIRT997130	hsa-miR-324-3p	CLIP-seq
MIRT997131	hsa-miR-3614-3p	CLIP-seq
MIRT997132	hsa-miR-3659	CLIP-seq
MIRT997133	hsa-miR-3678-3p	CLIP-seq
MIRT1995683	hsa-miR-376c	CLIP-seq
MIRT997135	hsa-miR-3944-5p	CLIP-seq
MIRT1995684	hsa-miR-4259	CLIP-seq
MIRT997136	hsa-miR-4290	CLIP-seq
MIRT1995685	hsa-miR-4300	CLIP-seq
MIRT1995686	hsa-miR-4323	CLIP-seq
MIRT997138	hsa-miR-4419a	CLIP-seq
MIRT997139	hsa-miR-4469	CLIP-seq
MIRT997141	hsa-miR-4510	CLIP-seq
MIRT997142	hsa-miR-4530	CLIP-seq
MIRT997143	hsa-miR-4658	CLIP-seq
MIRT997144	hsa-miR-4667-3p	CLIP-seq
MIRT1995687	hsa-miR-4690-3p	CLIP-seq
MIRT1995688	hsa-miR-4715-5p	CLIP-seq
MIRT997145	hsa-miR-4728-5p	CLIP-seq
MIRT997146	hsa-miR-4739	CLIP-seq
MIRT1995689	hsa-miR-4756-3p	CLIP-seq
MIRT997147	hsa-miR-4756-5p	CLIP-seq
MIRT1995690	hsa-miR-4757-5p	CLIP-seq
MIRT997148	hsa-miR-4758-5p	CLIP-seq
MIRT997149	hsa-miR-532-3p	CLIP-seq
MIRT997150	hsa-miR-574-5p	CLIP-seq
MIRT997152	hsa-miR-648	CLIP-seq
MIRT1995691	hsa-miR-920	CLIP-seq
MIRT997154	hsa-miR-922	CLIP-seq
MIRT1995692	hsa-miR-939	CLIP-seq
MIRT997155	hsa-miR-943	CLIP-seq
MIRT997124	hsa-miR-2467-3p	CLIP-seq
MIRT997131	hsa-miR-3614-3p	CLIP-seq
MIRT997136	hsa-miR-4290	CLIP-seq
MIRT997132	hsa-miR-3659	CLIP-seq
MIRT997143	hsa-miR-4658	CLIP-seq
MIRT997148	hsa-miR-4758-5p	CLIP-seq
MIRT997150	hsa-miR-574-5p	CLIP-seq
MIRT997152	hsa-miR-648	CLIP-seq
MIRT997116	hsa-miR-1224-3p	CLIP-seq
MIRT997117	hsa-miR-1260	CLIP-seq
MIRT997118	hsa-miR-1260b	CLIP-seq
MIRT997119	hsa-miR-1280	CLIP-seq
MIRT2681009	hsa-miR-1910	CLIP-seq
MIRT2681010	hsa-miR-214	CLIP-seq
MIRT2681011	hsa-miR-3619-5p	CLIP-seq
MIRT2681012	hsa-miR-4252	CLIP-seq
MIRT2681013	hsa-miR-4291	CLIP-seq
MIRT2681014	hsa-miR-455-3p	CLIP-seq
MIRT2681015	hsa-miR-761	CLIP-seq
MIRT997154	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000413	Process	Protein peptidyl-prolyl isomerization	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	ISS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005528	Function	FK506 binding	ISS
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	28774593
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0016020	Component	Membrane	IEA
GO:0017185	Process	Peptidyl-lysine hydroxylation	IEA
GO:0018208	Process	Peptidyl-proline modification	ISS
GO:0030199	Process	Collagen fibril organization	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0042060	Process	Wound healing	IEA
GO:0085029	Process	Extracellular matrix assembly	IEA

Other IDs

• MIM: 607063
• HGNC: 18169
• e!Ensembl: ENSG00000141756

Protein

• UniProt ID: Q96AY3
• Protein name: Peptidyl-prolyl cis-trans isomerase FKBP10 (PPIase FKBP10) (EC 5.2.1.8) (65 kDa FK506-binding protein) (65 kDa FKBP) (FKBP-65) (FK506-binding protein 10) (FKBP-10) (Immunophilin FKBP65) (Rotamase)
• Protein function: PPIases accelerate the folding of proteins during protein synthesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00254	FKBP_C	55 → 147	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
  PF00254	FKBP_C	167 → 259	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
  PF00254	FKBP_C	279 → 371	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
  PF00254	FKBP_C	392 → 483	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
  PF13202	EF-hand_5	503 → 526	EF hand	Domain
  PF13202	EF-hand_5	547 → 569	EF hand	Domain

• Sequence:

  MFPAGPPSHSLLRLPLLQLLLLVVQAVGRGLGRASPAGGPLEDVVIERYHIPRACPREVQ
  MGDFVRYHYNGTFEDGKKFDSSYDRNTLVAIVVGVGRLITGMDRGLMGMCVNERRRLIVP
  PHLGYGSIGLAGLIPPDATLYFDVVLLDVWNKEDTVQVSTLLRPPHCPRMVQDGDFVRYH
  YNGTLLDGTSFDTSYSKGGTYDTYVGSGWLIKGMDQGLLGMCPGERRKIIIPPFLAYGEK
  GYGTVIPPQASLVFHVLLIDVHNPKDAVQLETLELPPGCVRRAGAGDFMRYHYNGSLMDG
  TLFDSSYSRNHTYNTYIGQGYIIPGMDQGLQGACMGERRRITIPPHLAYGENGTGDKIPG
  SAVLIFNVHVIDFHNPADVVEIRTLSRPSETCNETTKLGDFVRYHYNCSLLDGTQLFTSH
  DYGAPQEATLGANKVIEGLDTGLQGMCVGERRQLIVPPHLAHGESGARGVPGSAVLLFEV
  ELVSREDGLPTGYLFVWHKDPPANLFEDMDLNKDGEVPPEEFSTFIKAQVSEGKGRLMPG
  QDPEKTIGDMFQNQDRNQDGKITVDELKLKSDEDEERVHEEL

• Sequence length: 582

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Bruck syndrome	Bruck syndrome, Bruck syndrome 2, Bruck syndrome 1	rs121434459, rs121434460, rs121434461, rs1567856056, rs387906960, rs1555616552, rs749709000, rs397509383, rs397514674, rs794727669, rs869320752, rs780770356, rs137853883, rs1567855132	22085994, 22689593, 22949511, 22085994, 22949511, 22689593, 20696291, 22949511, 22085994, 20839288, 22689593
Dentinogenesis imperfecta	Dentinogenesis Imperfecta	rs121912985, rs1560477489, rs121912987, rs121912989, rs1560480632, rs67707918, rs66883877
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	25931047, 21567934, 20839288, 22949511, 20362275, 22107750, 20696291
Osteogenesis imperfecta	Osteogenesis imperfecta type III (disorder), Osteogenesis imperfecta type IV (disorder), OSTEOGENESIS IMPERFECTA, TYPE XI, OSTEOGENESIS IMPERFECTA, TYPE XII, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4	rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs137853869, rs121434559, rs72659319, rs72659345, rs121912903, rs121912905, rs121912907, rs869254878, rs72658200, rs74315103, rs121912911, rs72658176, rs72656402, rs121912912, rs267606742, rs72659338, rs72645331, rs66721653, rs67368147, rs72653136, rs72653169, rs66523073, rs72656352, rs72645365, rs72667022, rs72645357, rs72656330, rs66527965, rs72645323, rs72656331, rs72667037, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs67828806, rs72656343, rs1906960583, rs72656314, rs67364703, rs72645347, rs72651618, rs66490707, rs72653170, rs72645320, rs137853892, rs1567856056, rs387906960, rs1555616552, rs137853865, rs137853866, rs193302872, rs193302871, rs193302873, rs137853893, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs587776916, rs398122891, rs318240762, rs372896892, rs398122834, rs749709000, rs397509383, rs397514674, rs398122518, rs398122519, rs398122520, rs387907325, rs387907333, rs387907334, rs387907354, rs387907355, rs387907356, rs387907357, rs727505392, rs786201032, rs786205217, rs786205218, rs786205219, rs786205220, rs797044559, rs794726873, rs72645353, rs869320752, rs137853943, rs797045033, rs863225043, rs869025223, rs869312908, rs878853274, rs72659347, rs72656370, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs369651701, rs886041866, rs886042260, rs886042286, rs886042603, rs886042897, rs72654794, rs72651642, rs140468248, rs137853944, rs1057517662, rs1057517663, rs74315111, rs72648337, rs1057518930, rs1057521085, rs1064794058, rs72658185, rs1555572249, rs67771061, rs1114167416, rs1114167417, rs72656386, rs1114167418, rs906553840, rs67729041, rs67865220, rs1114167412, rs67707918, rs68132885, rs72658119, rs72658143, rs72658150, rs72659310, rs67609234, rs1114167414, rs1114167415, rs72659325, rs67768540, rs1114167406, rs1114167405, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs72656338, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs1114167394, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651661, rs1114167390, rs72651645, rs1114167389, rs1114167388, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167374, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645337, rs72645334, rs72645321, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667016, rs72667012, rs1114167384, rs1114167409, rs1085307634, rs1131692167, rs765659555, rs1131692326, rs1131692320, rs1135401953, rs137853883, rs1555573313, rs72667014, rs1555573621, rs1555572125, rs1260429820, rs67879854, rs1555574143, rs1328384458, rs72648343, rs1555574516, rs1555574641, rs972668240, rs72656392, rs66612022, rs66619856, rs1554395970, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574493, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555571766, rs1555572401, rs1555572456, rs72651635, rs1555573484, rs1298621011, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72667031, rs1555571874, rs72653151, rs72653147, rs1213427451, rs72651620, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555178899, rs1555575370, rs1555572315, rs72645361, rs113994016, rs781272386, rs1554397369, rs1555572406, rs72651634, rs139593707, rs1555572316, rs72651640, rs1554396283, rs763159520, rs72658127, rs1553143741, rs1553143142, rs1554200383, rs1187611948, rs1554200371, rs1555572254, rs867628651, rs72653155, rs138570309, rs1410254723, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555575889, rs1555572759, rs1555574158, rs1555574177, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1554395470, rs1555572161, rs371243939, rs1555986267, rs1555986287, rs1555222973, rs779809838, rs1565789682, rs1557569037, rs1013320485, rs762525651, rs72656375, rs1567752926, rs1567752998, rs1567753046, rs1567753329, rs72653140, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567766329, rs72656326, rs1567753699, rs1567754277, rs72653168, rs72645370, rs1567762257, rs1567766338, rs72658193, rs72648357, rs1562906570, rs72659305, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs72648346, rs1565244847, rs1567757138, rs72656394, rs1562907287, rs1567754589, rs1598288342, rs1567855132, rs72659356, rs773269078, rs1570479611, rs762780039, rs1330779100, rs1598289920, rs72653133, rs1562906013, rs753338851, rs1570454914, rs1229143002, rs1570472113, rs137853939, rs768626850, rs1584324507, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1598299070, rs1598300304, rs1473458290, rs1598285125, rs72653171, rs72653150, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1597352358, rs1597355244, rs1597357740, rs1597357758, rs1597902342, rs1374482728, rs1597905563, rs1570452407, rs1570453963, rs1581634382, rs1597906442, rs1597908085, rs1597907877, rs1584316181, rs1584318953, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs2586486, rs1598286543, rs72654797, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs868166455, rs745891632, rs1021282486, rs780491808, rs1584320553, rs1598298699, rs72648321, rs1598288648, rs1598288967, rs72645352, rs1598298292, rs72645315, rs762979302, rs1598286050, rs1598301619, rs1584330396, rs72653156, rs1598295066, rs137853948, rs1598288002, rs1598289247, rs1652311421, rs1701306294, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs72667030, rs1907889665, rs1907921633, rs1908087291, rs1652352034, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs1906695650, rs72645338, rs1907787005, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs369314029, rs1908050941, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs1791951769, rs1792108270, rs1387151592, rs72656385	25046257, 21438135, 27362741
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Brachycephaly	Brachycephaly
Congenital clubfoot	Congenital clubfoot
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Congenital pectus carinatum	Congenital pectus carinatum
Dwarfism	Dwarfism
Elbow flexion contracture	Flexion contracture - elbow
Hip contracture	Hip Contracture
Kuskokwim syndrome	Kuskokwim disease, Kuskokwim syndrome		23712425
Melanocytic nevus	Melanocytic nevus
Osteopenia	Osteopenia
Pterygium	Pterygium
Talipes	Talipes