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WDR45B (WD repeat domain 45B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56270
Gene nameGene Name - the full gene name approved by the HGNC.
WD repeat domain 45B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
WDR45B
SynonymsGene synonyms aliases
NEDSBAS, WDR45L, WIPI-3, WIPI3
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif fo
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs786205510 G>A Pathogenic, likely-pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs1555647262 G>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT039009 hsa-miR-766-3p CLASH 23622248
MIRT037428 hsa-miR-744-5p CLASH 23622248
MIRT491941 hsa-miR-19b-3p PAR-CLIP 20371350
MIRT491940 hsa-miR-19a-3p PAR-CLIP 20371350
MIRT491939 hsa-miR-595 PAR-CLIP 20371350
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IMP 28561066
GO:0000407 Component Phagophore assembly site IDA 28561066
GO:0000422 Process Autophagy of mitochondrion IBA 21873635
GO:0005515 Function Protein binding IPI 28561066
GO:0005764 Component Lysosome IDA 28561066
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q5MNZ6
Protein name WD repeat domain phosphoinositide-interacting protein 3 (WIPI-3) (WD repeat-containing protein 45-like) (WDR45-like protein) (WD repeat-containing protein 45B) (WIPI49-like protein)
Protein function Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:28561066). Binds phosphatidylinosit
PDB 6IYY , 6KLR , 8ZQG , 9C9I , 9CE3
Family and domains
Sequence
MNLLPCNPHGNGLLYAGFNQDHGCFACGMENGFRVYNTDPLKEKEKQEFLEGGVGHVEML
FRCNYLALVGGGKKPKYPPNKVMIWDDLKKKTVIEIEFSTEVKAVKLRRDRIVVVLDSMI
KVFTFTHNPHQLHVFETCYNPKGLCVLCPNSNNSLLAFPGTHTGHVQLVDLASTEKPPVD
IPAHEGVLSCIALNLQGTRIATASEKGTLIRIFDTSSGHLIQELRRGSQAANIYCINFNQ
DASLICVSSDHGTVHIFAAEDPKRNKQSSLASASFLPKYFSSKWSFSKFQVPSGSPCICA
FGTEPNAVIAICADGSYYKFLFNPKGECIRDVYAQFLEMTDDKL
Sequence length 344
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Autophagy - animal   Macroautophagy
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Mental retardation Profound Mental Retardation, Mental deficiency, 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 21937992
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES rs786205510, rs1555647262 28503735
Spastic paraplegia Spastic Paraplegia rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464
Unknown
Disease name Disease term dbSNP ID References
Acquired kyphoscoliosis Acquired Kyphoscoliosis
Congenital kyphoscoliosis Congenital kyphoscoliosis
Hypoplasia of corpus callosum Hypoplasia of corpus callosum

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