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ITM2B (integral membrane protein 2B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9445
Gene nameGene Name - the full gene name approved by the HGNC.
Integral membrane protein 2B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ITM2B
SynonymsGene synonyms aliases
ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, RDGCA, imBRI2
ChromosomeChromosome number
13
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.2
SummarySummary of gene provided in NCBI Entrez Gene.
Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by f
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894417 T>A Pathogenic Stop lost, terminator codon variant
rs606231166 ->TTAATTTGTT Pathogenic Frameshift variant, coding sequence variant
rs606231283 A>C Pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028344 hsa-miR-32-5p Sequencing 20371350
MIRT052500 hsa-let-7a-5p CLASH 23622248
MIRT050305 hsa-miR-25-3p CLASH 23622248
MIRT048657 hsa-miR-99a-5p CLASH 23622248
MIRT048501 hsa-miR-100-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001540 Function Amyloid-beta binding IBA 21873635
GO:0001540 Function Amyloid-beta binding IPI 19849849
GO:0005515 Function Protein binding IPI 16027166, 17965014, 23701002, 25416956, 31695625, 32814053
GO:0005524 Function ATP binding IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9Y287
Protein name Integral membrane protein 2B (Immature BRI2) (imBRI2) (Protein E25B) (Transmembrane protein BRI) (Bri) [Cleaved into: BRI2, membrane form (Mature BRI2) (mBRI2); BRI2 intracellular domain (BRI2 ICD); BRI2C, soluble form; Bri23 peptide (Bri2-23) (ABri23) (C
Protein function Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a
PDB 8RNU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04089 BRICHOS
139 230
BRICHOS domain
Domain
Sequence
MVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPDDVVPVGQRRAWCWCMCFG
LAFMLAGVILGGAYLYKYFALQPDDVYYCGIKYIKDDVILNEPSADAPAALYQTIEENIK
IFEEEEVEFISVPVPEFADSDPANIVHDFNKKLTAYLDLNLDKCYVIPLNTSIVMPPRNL
LELLINIKAGTYLPQSYLIHEHMVITDRIENIDHLGFFIYRLCHDKETYK
LQRRETIKGI
QKREASNCFAIRHFENKFAVETLICS
Sequence length 266
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.
 
Reactome
    Amyloid fiber formation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cerebral amyloid angiopathy ABri amyloidosis, Cerebral Amyloid Angiopathy, CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 rs104894417, rs63750579, rs63750264, rs63750066, rs63750921, rs80356710, rs80356711, rs398122414, rs1555782101 10781099, 10391242
Adan amyloidosis ADan amyloidosis rs606231166
Hypertension Hypertensive disease rs13306026, rs13333226 22228705
Retinal dystrophy Retinal Dystrophies rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803, rs121908282, rs549625604, rs137852837, rs281865192, rs80044281, rs75895925, rs121918244, rs750962965, rs104893678, rs104893680, rs28940313, rs386834261, rs28940314, rs104894471, rs104894474, rs104894475, rs28940315, rs121434337, rs202126574, rs111033578, rs119103283, rs199476183, rs267607017, rs80338903, rs111033367, rs121912599, rs80338902, rs111033364, rs121912600, rs121909398, rs119103286, rs587777809, rs606231137, rs28940274, rs28941468, rs28941469, rs121918283, rs28940276, rs28940570, rs28940278, rs281865528, rs121918284, rs121918286, rs121918288, rs121918289, rs80100937, rs119466001, rs121434241, rs121434242, rs121434236, rs121434238, rs121907899, rs267606876, rs267606875, rs121434286, rs387906312, rs587776590, rs111033258, rs587776595, rs587776596, rs1362648752, rs74315205, rs121908175, rs121908177, rs121908178, rs138043021, rs121908180, rs111033270, rs1131690770, rs28937883, rs80356530, rs121908375, rs1480243085, rs397515359, rs267606739, rs397515360, rs74315396, rs730880273, rs119489105, rs371956016, rs104894492, rs104894493, rs28937873, rs121912631, rs62637014, rs137853005, rs137853006, rs62635656, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs62638214, rs62638624, rs104894082, rs869320726, rs80358322, rs80358312, rs28939709, rs72664233, rs796051866, rs121918358, rs141659620, rs111033570, rs121909074, rs121909076, rs1581742970, rs104894672, rs61748436, rs104894673, rs2123743692, rs61750415, rs201578674, rs61751408, rs61749438, rs61750061, rs61750064, rs61751374, rs61748548, rs61750200, rs121909205, rs61750130, rs61752410, rs387906387, rs61751383, rs121909206, rs61753033, rs267607077, rs62638191, rs62638193, rs111033593, rs104894374, rs121434491, rs796051871, rs397515379, rs121917851, rs104893967, rs121434631, rs61750172, rs61750173, rs104893612, rs104893613, rs104893614, rs104893615, rs104893616, rs104893617, rs137852608, rs104893619, rs104893620, rs104893621, rs199476104, rs199476112, rs61752063, rs61752067, rs104894928, rs104894933, rs104894930, rs61752068, rs62638634, rs606231180, rs606231181, rs28933687, rs104894927, rs104894878, rs104894880, rs132630264, rs587776746, rs132630266, rs122456134, rs28934610, rs104895317, rs113624356, rs137853300, rs587776778, rs777094000, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs104893780, rs104893787, rs104893783, rs104893786, rs104893782, rs104893790, rs104893791, rs104893793, rs104893794, rs104893795, rs137853290, rs28933990, rs137853291, rs121918579, rs730880317, rs121918581, rs61752895, rs61752871, rs121917745, rs61755806, rs121918563, rs61755793, rs61755792, rs61748429, rs61755816, rs61755798, rs121918565, rs61755769, rs61755786, rs61755771, rs121918567, rs61755783, rs121912550, rs121912552, rs62625014, rs121912884, rs80356555, rs121434542, rs80359870, rs193302848, rs193302849, rs387906646, rs121909835, rs61749433, rs61751399, rs387906836, rs387906837, rs374390376, rs786200928, rs201391050, rs373909351, rs140287375, rs148374859, rs483352908, rs140511594, rs387907136, rs770066665, rs376586707, rs387907268, rs142968179, rs150726175, rs387907294, rs200311463, rs149648640, rs747425652, rs387907314, rs199476198, rs199476187, rs199476189, rs199476190, rs207482233, rs199476197, rs62645748, rs786205121, rs140256288, rs201153410, rs397516281, rs111033180, rs397516295, rs111033233, rs199897298, rs111033214, rs111033178, rs111033403, rs111033181, rs397516308, rs111033182, rs111033276, rs397516317, rs111033215, rs397516323, rs111033192, rs397516326, rs111033486, rs111033284, rs111033285, rs367928692, rs370983472, rs371981035, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs397517973, rs397517976, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033417, rs397517990, rs397517994, rs111033273, rs397518011, rs397518014, rs375668376, rs397518021, rs397518022, rs111033386, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518048, rs73090721, rs111033263, rs386833612, rs386833697, rs386833728, rs386833749, rs386834148, rs386834153, rs786200944, rs398122391, rs386834239, rs199469697, rs267598278, rs267601099, rs398122960, rs398122525, rs398122991, rs369037463, rs61750120, rs61752435, rs1800728, rs398123339, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs431905521, rs104895298, rs104895316, rs61749679, rs61750161, rs61750168, rs61750183, rs61750185, rs61749669, rs61755778, rs61755780, rs61755781, rs61755784, rs61755785, rs61755787, rs62645929, rs62645931, rs281865372, rs61755800, rs61755801, rs61755803, rs61755805, rs61755810, rs61755814, rs61755815, rs62645935, rs61755766, rs281865373, rs61748430, rs61748433, rs281865301, rs62635001, rs62635002, rs62653029, rs62635009, rs62638627, rs62638626, rs62638642, rs281865297, rs62638648, rs62650218, rs62640583, rs62640592, rs281865295, rs61751276, rs61751281, rs62636295, rs62636299, rs61752873, rs281865285, rs62642584, rs61752877, rs62642582, rs61751279, rs61752906, rs62645885, rs62645889, rs61750457, rs61752062, rs61752065, rs61752071, rs61752072, rs61752145, rs281865335, rs62645879, rs61752156, rs61752158, rs61752159, rs61753164, rs281865348, rs61753170, rs61753171, rs61753174, rs281865352, rs281865354, rs281865355, rs281865356, rs281865357, rs281865358, rs281865359, rs281865361, rs281865362, rs281865365, rs281865364, rs281865367, rs281865368, rs281865369, rs61748547, rs63749083, rs62642569, rs61748550, rs61751410, rs61752391, rs61748552, rs61748523, rs61748556, rs150774447, rs61748558, rs61748559, rs61751385, rs61751393, rs55732384, rs61749409, rs61749410, rs61749412, rs61751394, rs61749414, rs61749415, rs61749418, rs61752401, rs61751263, rs62654395, rs61749420, rs201738997, rs61749422, rs62654397, rs61749423, rs61749425, rs61751412, rs61748526, rs61749428, rs61751395, rs61750202, rs61749436, rs61752406, rs61749444, rs61749446, rs61748529, rs61749448, rs61749449, rs61749450, rs61749451, rs61749453, rs61752411, rs62645948, rs61748530, rs61751413, rs61749456, rs61751262, rs61749459, rs61751397, rs61750062, rs61752415, rs61750065, rs61748531, rs61751398, rs61752416, rs61752417, rs62645946, rs61752419, rs61750121, rs1801269, rs61752421, rs61752423, rs61752425, rs281865514, rs61751400, rs61752427, rs61752428, rs62642573, rs61750137, rs61750139, rs61754044, rs61750138, rs61750140, rs61750141, rs61750142, rs61752434, rs61750145, rs61750146, rs61750147, rs61751402, rs281865377, rs62646861, rs61750152, rs62642574, rs62645957, rs61750153, rs61750155, rs61752438, rs61752439, rs61751403, rs61750562, rs62646872, rs61750564, rs61753021, rs61750566, rs61750567, rs61751377, rs61751405, rs61750569, rs61753028, rs61750571, rs61750573, rs61751406, rs61750574, rs61753029, rs61753030, rs62642562, rs62642576, rs61750633, rs62642579, rs61748534, rs61751407, rs61753032, rs61751389, rs61753036, rs61750639, rs61753037, rs61748517, rs61750641, rs61750643, rs61753038, rs61750644, rs61750645, rs281865382, rs61750648, rs62642565, rs61750649, rs61748520, rs61750651, rs61753043, rs61750652, rs61750653, rs61750654, rs61751384, rs63749058, rs61748538, rs61751409, rs61753045, rs61753046, rs63749055, rs61750659, rs62645958, rs62646864, rs62645944, rs61748545, rs61751418, rs62636512, rs281865516, rs62636511, rs281865168, rs281865171, rs281865529, rs281865204, rs281865221, rs281865224, rs281865206, rs281865227, rs281865228, rs281865230, rs281865209, rs281865236, rs200277476, rs281865238, rs281865239, rs281865244, rs281865246, rs281865247, rs137853905, rs281865213, rs281865214, rs281865215, rs281865216, rs281865250, rs281865253, rs281865255, rs1805143, rs281865257, rs281865258, rs281865218, rs1805144, rs281865259, rs281865261, rs281865262, rs281865265, rs281865269, rs281865271, rs281865277, rs62637025, rs281865194, rs62640580, rs62640570, rs62636266, rs62636271, rs62636273, rs62636276, rs281865174, rs62645752, rs137853907, rs137853923, rs377177061, rs202210819, rs587777377, rs199882533, rs587777599, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs527236129, rs148460146, rs527236048, rs527236101, rs527236100, rs527236062, rs527236056, rs527236092, rs527236065, rs527236068, rs527236069, rs527236066, rs527236076, rs527236067, rs527236082, rs372989281, rs527236116, rs201493928, rs527236105, rs527236083, rs527236113, rs527236086, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236123, rs55958016, rs587777694, rs587783009, rs587783017, rs713993049, rs727504551, rs727505116, rs727503731, rs146733615, rs727503715, rs727505343, rs727503723, rs376764423, rs727504075, rs782252317, rs797044513, rs797044516, rs150232843, rs730882143, rs730882261, rs142422525, rs746523071, rs786204428, rs61750423, rs372006750, rs786204762, rs373862340, rs773372519, rs786204444, rs786204701, rs786204761, rs750228923, rs749909863, rs786205148, rs748902766, rs786205445, rs2723341, rs786205493, rs368098126, rs786205579, rs786205626, rs786205652, rs750542962, rs863223339, rs779007169, rs201422368, rs786205664, rs786205663, rs746559651, rs786205665, rs786205662, rs786205661, rs794726979, rs794727001, rs794727006, rs794727120, rs794727139, rs794727197, rs797044676, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs377311148, rs794727631, rs794727640, rs201657446, rs372347027, rs758329611, rs797044761, rs148660051, rs779791079, rs753330544, rs796065331, rs199946797, rs794729650, rs373273223, rs781192528, rs534542684, rs386833744, rs886041039, rs746174328, rs797045089, rs752683070, rs774122562, rs376306240, rs368049814, rs797045228, rs770558150, rs772624348, rs200692438, rs772136379, rs863224941, rs759781200, rs771214648, rs370483961, rs869025207, rs777668842, rs753874898, rs371525247, rs749439750, rs780624853, rs727503855, rs863225212, rs201541131, rs80358295, rs80358284, rs869312182, rs869312180, rs869312186, rs869312184, rs869312188, rs869312183, rs869312181, rs869312187, rs869312185, rs200460601, rs768933093, rs879255593, rs869320709, rs749012133, rs762951570, rs869320785, rs760225886, rs766590491, rs876657731, rs397517963, rs876657718, rs876661298, rs775177930, rs886044764, rs886044761, rs886044759, rs886044758, rs752147871, rs886044756, rs142253670, rs886044754, rs886044753, rs886044752, rs760549861, rs886044750, rs886044749, rs886044747, rs886044732, rs886044746, rs759672616, rs886044745, rs568792949, rs886044742, rs200967229, rs886044741, rs886044740, rs746541266, rs886044738, rs886044737, rs886044736, rs768278935, rs1047376, rs756840095, rs886044731, rs886044735, rs201471607, rs61749441, rs746566873, rs61749427, rs766570903, rs886044730, rs61752398, rs886044728, rs886044727, rs886044726, rs886044725, rs765707028, rs61752390, rs886044722, rs886044721, rs886044720, rs886044719, rs778908435, rs878853366, rs878853364, rs767648174, rs878853371, rs878853367, rs878853369, rs746837034, rs368675850, rs878853407, rs878853413, rs878853414, rs878853411, rs878853405, rs758705873, rs878853404, rs878853408, rs765293412, rs878853410, rs878853372, rs878853397, rs878853396, rs878853355, rs878853354, rs878853353, rs750151209, rs201186440, rs761440783, rs757470958, rs878853359, rs878853357, rs878853358, rs768660614, rs878853379, rs878853352, rs878853351, rs878853400, rs762078182, rs372513650, rs199584830, rs878853348, rs878853350, rs878853349, rs143994166, rs878853382, rs746359399, rs557432569, rs769156393, rs878853327, rs878853329, rs878853328, rs878853326, rs751788879, rs878853337, rs878853347, rs878853378, rs878853376, rs781112960, rs878853361, rs878853362, rs747835249, rs371496675, rs878853360, rs878853363, rs878853392, rs878853391, rs878853390, rs577932201, rs878853389, rs878853341, rs878853338, rs878853339, rs878853385, rs377031435, rs760430056, rs878853394, rs878853387, rs878853342, rs878853383, rs878853331, rs878853335, rs878853334, rs868538598, rs878853374, rs878853381, rs867451420, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs757557272, rs552069173, rs139027297, rs765998048, rs886039311, rs748810737, rs886039867, rs748706582, rs886041040, rs886041502, rs886041951, rs748394238, rs886041233, rs367877017, rs886041141, rs780225183, rs886041142, rs769035379, rs753353134, rs886041176, rs886041179, rs886041177, rs886041376, rs886041178, rs758109813, rs760165634, rs750396156, rs749526785, rs371777049, rs886043023, rs776256380, rs773539640, rs776740276, rs575453437, rs201855602, rs886044148, rs886044302, rs770748359, rs753018563, rs779426136, rs200094982, rs141563823, rs770218590, rs752953889, rs886063161, rs199877211, rs749199721, rs1057517533, rs536593247, rs758921360, rs1057517251, rs1057516451, rs376894444, rs746875134, rs147030232, rs1057517692, rs1057517844, rs374536346, rs116471343, rs865990202, rs61752902, rs387906385, rs1057517869, rs1057517700, rs543698823, rs752179149, rs1057517857, rs1057517982, rs62645894, rs1057517715, rs1057518922, rs1057518955, rs775796581, rs1057518793, rs368088025, rs1057519165, rs1057519193, rs556788423, rs1057519342, rs1057520152, rs759898765, rs397517979, rs199840367, rs61750638, rs779466403, rs760790294, rs1057520213, rs371489809, rs1057521112, rs763797356, rs1057521475, rs766246531, rs1060499783, rs747656448, rs745340459, rs1166022838, rs775950661, rs375413604, rs1064793289, rs200712760, rs137954284, rs1064793014, rs762150575, rs141823837, rs1064793006, rs769317780, rs559155109, rs753925314, rs769671323, rs199740930, rs1064794848, rs771898125, rs775283269, rs1064794012, rs763762899, rs139842473, rs777849213, rs112005636, rs1064797133, rs1064797134, rs770011113, rs1064797247, rs777497868, rs773065850, rs1064797365, rs1064797368, rs752159903, rs866978361, rs1085307968, rs1375507464, rs772725807, rs201320564, rs776896038, rs764742792, rs1554612159, rs62645747, rs753886165, rs753614067, rs140451304, rs555164150, rs539192853, rs766379510, rs281865531, rs369523378, rs1553192715, rs72664214, rs72653787, rs1473611414, rs1455470131, rs752762669, rs369775002, rs145282040, rs773914330, rs1553263218, rs1003869920, rs1553252388, rs762159022, rs751111524, rs746551311, rs780308389, rs199683808, rs1553186896, rs1297857869, rs776757706, rs778234759, rs1435203678, rs1553188588, rs1553188682, rs1553189507, rs1553190559, rs1553190664, rs1553192432, rs1553192682, rs1553192726, rs1553193813, rs764759172, rs1356104318, rs541717028, rs111733491, rs1553512879, rs1553513437, rs569826109, rs367658438, rs750987123, rs1553403585, rs754995805, rs758291149, rs1553711564, rs1553780837, rs373331232, rs780697796, rs370898371, rs753942596, rs144484128, rs146591309, rs777309662, rs1554186385, rs1554269053, rs1554270834, rs181169439, rs1554183440, rs930421180, rs1554214453, rs760798455, rs764163418, rs866395428, rs765129639, rs1554519555, rs1449723475, rs1554519651, rs769601671, rs977790637, rs1554857529, rs756678484, rs1554824273, rs906525288, rs1555036138, rs1555037395, rs1555096248, rs1555099048, rs531851447, rs1199012623, rs766096417, rs377257254, rs199830550, rs756806434, rs1352458826, rs189234741, rs752997229, rs771450991, rs1555792415, rs1555811525, rs758316679, rs748531024, rs778612831, rs1555870809, rs749009747, rs1555874538, rs1555961832, rs1555961852, rs1556318633, rs1557106557, rs1555955061, rs1554998040, rs1554628460, rs1461319754, rs770390524, rs1553901823, rs1347914291, rs1554519822, rs555421894, rs1556297584, rs1556300610, rs1556300621, rs1554264613, rs758052634, rs775836730, rs1555208870, rs1409688898, rs763371769, rs1554186463, rs779450345, rs778606847, rs754768875, rs765429911, rs1272411609, rs1349849938, rs1002670900, rs1553781140, rs373792616, rs200335504, rs1369414978, rs1366496013, rs1555202584, rs567573386, rs1365490247, rs141386891, rs534534437, rs769838859, rs1201940872, rs753090404, rs138958917, rs761469964, rs1460604134, rs748357067, rs1429786931, rs201730567, rs1553187162, rs1553188071, rs765063151, rs780910490, rs143344549, rs866982675, rs769215629, rs752521456, rs1553189179, rs751176116, rs1244761864, rs765402802, rs782077721, rs143745703, rs201823777, rs1553188916, rs1309140887, rs1431752515, rs1554963305, rs1555965107, rs142285818, rs1307312865, rs1554269081, rs769512989, rs1555225566, rs1553196583, rs951379922, rs1554963058, rs1555200648, rs1555550617, rs1555968248, rs1555098634, rs199636364, rs768161313, rs1553252499, rs1177257719, rs200871041, rs757676723, rs747160949, rs764917754, rs1295968274, rs764182950, rs747063294, rs367674026, rs779572631, rs1553257707, rs746447649, rs1431048303, rs749452910, rs1553273330, rs779716464, rs1485173724, rs1553261372, rs1553250150, rs1553299079, rs199782530, rs370327669, rs199982344, rs1553261479, rs988693758, rs760302201, rs1553271001, rs1553313810, rs770383273, rs993185407, rs483353054, rs780779563, rs1553270960, rs775293551, rs754374132, rs1553272176, rs745350407, rs756623509, rs767078782, rs1342455785, rs1177198729, rs372927796, rs748961218, rs771583281, rs1188025733, rs868562952, rs1553250952, rs758303489, rs1484339054, rs781223647, rs1187839124, rs767414973, rs1225343345, rs761292021, rs754702823, rs1553409710, rs1476205467, rs1553421626, rs1553941304, rs1326370032, rs1427770112, rs528919874, rs750840208, rs752736741, rs1165454778, rs751629543, rs1554537807, rs747240928, rs143842048, rs1052030, rs1472566324, rs1555067667, rs1156913215, rs760693838, rs1555454566, rs1555521379, rs1273181642, rs1367927635, rs544773389, rs773862084, rs1555520142, rs764164384, rs779690256, rs750506474, rs878962682, rs116733939, rs1565083843, rs748983904, rs1457937638, rs1189889920, rs746141070, rs868349465, rs1562140604, rs1563329888, rs1563983151, rs776289402, rs1566561006, rs777989874, rs750740765, rs574936510, rs771551785, rs1569235803, rs1569237206, rs370210428, rs1280238814, rs1563366896, rs747914869, rs756310864, rs772170760, rs757823463, rs138011813, rs753884599, rs988133284, rs868732642, rs1557783989, rs1562846257, rs1558251742, rs281865520, rs61750171, rs755733328, rs1471994744, rs758660532, rs1557787756, rs970990957, rs1190307769, rs1569237077, rs752263228, rs971610277, rs775957498, rs1557918635, rs1557918544, rs1565653781, rs552517556, rs777215595, rs1562434099, rs373203896, rs772917364, rs374410829, rs776727320, rs1559643320, rs751290509, rs772057239, rs779983752, rs1562220891, rs778977288, rs377267777, rs777069665, rs145719998, rs1557767754, rs530749007, rs150412614, rs759662695, rs777878533, rs377029071, rs1000861056, rs781705903, rs201863550, rs771000800, rs1571241930, rs1571241947, rs2297669, rs886039299, rs772421550, rs959069360, rs768210562, rs766357803, rs61755811, rs1582780550, rs74419361, rs1585557752, rs1585567204, rs1225032182, rs281865263, rs368489658, rs759339012, rs1595956595, rs1365926616, rs758001091, rs1598146589, rs776004321, rs1601943268, rs754970095, rs745654673, rs1578097528, rs781377291, rs1581211727, rs968692633, rs1600340117, rs1571264574, rs1570377861, rs1302809734, rs536742386, rs769742202, rs185225547, rs752939204, rs748798324, rs751823180, rs770329105, rs774130993, rs775699005, rs1225304963, rs371032798, rs745656125, rs111033477, rs1294402003, rs759408031, rs200387832, rs776204925, rs758899480, rs746351112, rs1562408256, rs751413984, rs769723975, rs374258471, rs1571158279, rs1571134523, rs778114016, rs561075447, rs1571783742, rs759433119, rs1373168392, rs1571243037, rs1232476760, rs1571257754, rs1571258440, rs1571265125, rs61751401, rs1571265241, rs1570367230, rs1401924846, rs1557787473, rs1366296798, rs761209432, rs746291728, rs1578281565, rs745704627, rs765376986, rs769824975, rs376500610, rs888090139, rs764232082, rs1601917999, rs1601974881, rs761460379, rs111033408, rs1571703801, rs774475956, rs1208195953, rs752619497, rs755429480, rs375548374, rs1600335148, rs1254494198, rs1582929649, rs1571848744, rs1571540258, rs368687374, rs1437993640, rs779743222, rs774215025, rs763272975, rs1585563283, rs1587620892, rs776634113, rs1592521438, rs1592521712, rs1592784618, rs1420750126, rs1594867516, rs281865302, rs890453675, rs1577301137, rs1581735836, rs1656419435, rs1386612395, rs1660298900, rs2039692173, rs1659430629, rs1659900155, rs1661098509, rs1661577361, rs751644763, rs1734066547, rs1737442897, rs1761021773, rs1800111659, rs986748364, rs1488052513, rs1766367970, rs1300490966, rs368159852, rs886210482, rs1806033844, rs1806128576, rs748084580, rs1942169028, rs745934202, rs1400806789, rs1257334132, rs2073964950, rs1314226094, rs1927824776, rs2067124487, rs2067127275, rs1854473658, rs1601943325, rs2067985165, rs2067987832, rs1924521431, rs1662216783, rs1571801788, rs1594280740, rs34713174, rs1197863938, rs1278603247, rs778645644, rs766357080, rs1039053911, rs768445391, rs767729255, rs1570373408, rs747950242, rs151141842, rs369184026, rs768713412, rs1657798642, rs1424639717, rs769609970, rs201529124, rs369973540, rs1306732480, rs1368508052, rs1660843703, rs542919944, rs1661575232, rs1005271380, rs1191816747, rs375110174, rs188492864, rs769632183, rs753107507, rs748396645, rs2063883437, rs749842881, rs201782746, rs771980888, rs759184240, rs2084776162, rs142771862, rs368213921, rs772867912, rs145605739, rs760042062, rs1372091680, rs1745312538, rs754916169, rs1355690902, rs1336317768, rs1299355731, rs184722374, rs1245304444, rs1389794536, rs780433094, rs1388177618, rs748370008, rs767005321, rs1231321479, rs1806041389, rs1365908727, rs761969118, rs927241903, rs1844909478, rs28940275, rs775791299, rs111033187, rs778934538, rs2033943937, rs1033594764, rs535922252, rs745741473, rs138370992, rs759505780, rs76076446, rs749738655, rs1968169319, rs1270675463, rs1386256334, rs1924904597, rs2065670611, rs1659900228, rs529598960, rs777673930, rs1228475082, rs1772614934, rs201086679, rs748946491, rs767630412, rs144169488, rs746128841, rs1174120641, rs199537336, rs767366723, rs1767600988, rs1769267226, rs1955083613, rs1826338661, rs1657981991, rs1658082808, rs1658656722, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664643556, rs766411096, rs1664671663, rs1426006136, rs1558138741, rs1665100409, rs1665102146, rs1450635782, rs760544654, rs1216093309, rs1656416727, rs1656646221, rs1656901821, rs1657796004, rs1657799720, rs1419913594, rs1485393201, rs755480221, rs1657961646, rs1657976232, rs1657992342, rs1657997730, rs1658179729, rs1659887829, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1663836291, rs1664810877, rs1665132445, rs1665453379, rs755032078, rs2032220940, rs2032459600, rs769198746, rs2034687946, rs2034852728, rs2035704899, rs2036051613, rs2036054600, rs2036066604, rs757154662, rs2037018431, rs766370703, rs2037679829, rs757525434, rs2038566220, rs1195779037, rs2038568675, rs2039690812, rs1643875847, rs1645824260, rs562037932, rs886042220, rs1444234037, rs779585931, rs1659061509, rs62642580, rs1362964563, rs1242866408, rs1659430143, rs1659452428, rs757449019, rs1659538743, rs1659721337, rs1659840790, rs763911476, rs751844313, rs1340989734, rs1659953619, rs1660137001, rs61750148, rs1660166963, rs1046550021, rs1283350532, rs1660480045, rs1660481072, rs373868915, rs1237125868, rs1660532299, rs757302286, rs1661162346, rs1661163134, rs374224955, rs1448468321, rs1661625047, rs1661663692, rs1661669685, rs868543294, rs1641704371, rs771336246, rs1684627892, rs1684979540, rs1252719064, rs774755041, rs1676904823, rs775776288, rs746238212, rs1278226911, rs1238123416, rs1689010156, rs1689011389, rs200711686, rs1685573282, rs1668402514, rs1366937730, rs761147595, rs1182748194, rs1558488513, rs1667504255, rs1667506537, rs1196801124, rs753619551, rs1558490060, rs866543181, rs762973163, rs1270472063, rs1205704532, rs1671925979, rs774594040, rs748709116, rs749339938, rs1315351235, rs541559170, rs1672973685, rs1674967197, rs1412574975, rs376091780, rs556400279, rs2063893838, rs2063918440, rs2078763986, rs2078764558, rs1692508715, rs761554853, rs762668060, rs943314733, rs1227761587, rs1692915919, rs779023431, rs1692928194, rs1692930941, rs201747279, rs183838250, rs779626652, rs1706422873, rs1706423076, rs1706423758, rs771246451, rs1706439944, rs770399625, rs1472199114, rs1706473340, rs1706474422, rs1706627397, rs1706755871, rs746003280, rs1706843510, rs764109533, rs149079952, rs2084757329, rs1415160298, rs1578278438, rs104893788, rs2084785435, rs1560046837, rs1402468701, rs1578280588, rs984572250, rs1578281706, rs2084801700, rs1235835151, rs1715594024, rs1732788163, rs778059585, rs762782183, rs974173261, rs1560708847, rs1328767121, rs1718726537, rs761152494, rs1743846367, rs369063468, rs775749608, rs768694789, rs1738673948, rs1738698692, rs369717052, rs1237954156, rs767438881, rs1734075026, rs1735848896, rs1736334634, rs761619791, rs747970185, rs1737428529, rs1737429976, rs373037737, rs1737503567, rs746552548, rs759563967, rs1754021035, rs1760621228, rs1746018557, rs1185617030, rs1748947002, rs1292664749, rs1754556067, rs1755688091, rs778188580, rs1758488956, rs1764301206, rs1364707671, rs1784887448, rs781198326, rs1770116834, rs751589956, rs766181526, rs774204108, rs760829254, rs1305999116, rs1331834680, rs1768016995, rs1799985749, rs1799986608, rs1799988458, rs1800110629, rs1800110757, rs1800110798, rs1458793437, rs1800111486, rs61755813, rs1442844778, rs779414078, rs61755794, rs1242862941, rs1761921113, rs1409801782, rs1768346880, rs772549804, rs1768389030, rs1431427428, rs1770904723, rs1774743530, rs1766383947, rs909730457, rs1766404452, rs1767312015, rs1767601715, rs1245121527, rs1767699695, rs1295206142, rs548565748, rs1768657480, rs1765727233, rs1765728504, rs1766556883, rs746499646, rs1766006937, rs1766009155, rs1375767063, rs1459031771, rs779372264, rs986664547, rs1769692830, rs1769707298, rs1793956441, rs1798216037, rs1784156837, rs763759470, rs1797868307, rs749460193, rs371886218, rs1797910388, rs1806020324, rs1806033441, rs1806036718, rs1806037949, rs1488237523, rs1806043158, rs1230883512, rs1806057300, rs779290365, rs746396730, rs1806079331, rs373109791, rs1806160527, rs1822989898, rs202036979, rs141099767, rs1819778559, rs751600925, rs763785730, rs1819787095, rs754275640, rs1819797791, rs1821068883, rs776271026, rs1363491382, rs1042726781, rs1363359148, rs781881541, rs1861132418, rs1865149889, rs1866696630, rs754876029, rs1841315122, rs1841460358, rs1842189258, rs760608593, rs1842324166, rs1844615558, rs1844944116, rs2058399145, rs1403661741, rs746820022, rs1236291370, rs2058673701, rs2041025786, rs1243587288, rs1850697098, rs1850741468, rs1209208472, rs1382219910, rs980876322, rs762398929, rs1942208203, rs1856478505, rs1856787758, rs1856790811, rs775166854, rs2098614719, rs2098676296, rs2098677212, rs782639389, rs1953075862, rs1954927143, rs749747871, rs780609120, rs375135224, rs2033241849, rs2033937635, rs748471942, rs1345994179, rs2037229663, rs762633090, rs774490795, rs769102771, rs1882854195, rs1882945917, rs1883031542, rs1739469293, rs768178406, rs747257567, rs761167763, rs1163040913, rs2038196341, rs140257538, rs760813820, rs751589863, rs766173950, rs779740894, rs769845921, rs2034398158, rs2034427266, rs200047855, rs2074443699, rs1566947860, rs1489149705, rs955766374, rs2054237722, rs2065896039, rs766675673, rs561618945, rs762111572, rs2033706353, rs2034681207, rs2034747055, rs762817061, rs2035847573, rs2046158549, rs1451575280, rs756885471, rs1210263161, rs1960899756, rs1468272829, rs1157108621, rs1193604660, rs121434239, rs1911391944, rs773201535, rs1975949139, rs769818541, rs104894671, rs1968162133, rs1968165008, rs1968165080, rs1968169004, rs1968170098, rs2073701307, rs2073708846, rs2073709089, rs2073817463, rs2073817965, rs2073854068, rs2073855020, rs2073873693, rs2073875313, rs2073876392, rs2073926924, rs2073964314, rs1342475527, rs2073970078, rs2073970450, rs2074043162, rs2064852005, rs759131391, rs2067513100, rs775124094, rs890128759, rs2088652401, rs1300228825, rs2089115544, rs752395624, rs756223600, rs1925733148, rs1927703176, rs1927819239, rs1928220547, rs1928222017, rs2067114709, rs2067117239, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs1569235999, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169164, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067175855, rs2067176160, rs2067176379, rs1373833359, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs2067196140, rs2067201139, rs2067217398, rs2067217662, rs2067217874, rs2067218363, rs2067267431, rs2067277129, rs2067406342, rs2067449854, rs2067451355, rs62642057, rs2067700774, rs2067877357, rs2067878321, rs2067878443, rs2067976665, rs2067985696, rs2064376489, rs2064378728, rs1924521211, rs1924895234, rs1924896735, rs1924897230, rs1924901288, rs1924904407, rs1925035229, rs2065644808, rs2065701414, rs2065717735, rs2065740868, rs2065833366, rs2065833777, rs1244003380, rs1926202704, rs1926208067, rs1926208868, rs1929999634, rs1930006988, rs1930414140, rs1930421028, rs1930424797, rs1930435879, rs1930445401, rs1934694621, rs762837543, rs1927017073, rs1649583816, rs1292874452, rs1654722914, rs760287363, rs1664686689, rs1665282720, rs1235430504, rs1371160062, rs1661818720, rs2031604509, rs1558244152, rs2034951427, rs2037617658, rs912980910, rs2037658254, rs756111113, rs1658918693, rs759513613, rs61750156, rs1659914923, rs751319688, rs1659997092, rs1168144507, rs544428779, rs1662599697, rs1677289241, rs1687854945, rs1005130980, rs1334444660, rs1560664459, rs1577845276, rs1722845773, rs1472802723, rs898144119, rs1383907349, rs781616522, rs369896113, rs1753232409, rs1751572548, rs769286352, rs1761904690, rs1768621810, rs1769469813, rs1826145876, rs1951414426, rs1402893508, rs764824311, rs1865145294, rs769524849, rs1280991447, rs762805265, rs1841921374, rs547198427, rs2058440863, rs1941247515, rs1941898895, rs1856202628, rs1856699646, rs1956849074, rs1957972028, rs1939312423, rs1399741348, rs752197734, rs2035880971, rs2038012556, rs760391688, rs2054201689, rs2065735740, rs748523056, rs2034739931, rs1961362638, rs2073798309, rs2073871791, rs2073961843, rs2073971858, rs752137434, rs2035758739, rs1928365871, rs1928241490, rs2067453631, rs1924915809, rs1925389524, rs782557600, rs2065753439, rs1924181543, rs1930090887, rs1603263147, rs1931625021, rs1934693393, rs748680704, rs765070399, rs765676754, rs1366609497, rs1657036615, rs1467000353, rs1667513233, rs1167380267, rs2084786704, rs1295259849, rs1819778622, rs374517178, rs368984997, rs2040644756, rs775073228, rs148045000, rs2067140574, rs2067148119, rs2067179633, rs2067190976, rs2067200470, rs2067498092, rs1924193863
Unknown
Disease name Disease term dbSNP ID References
Dementia Dementia, Dementia, familial Danish 10781099
Ischemic stroke Ischemic stroke rs6025, rs1799963, rs1799983 10781099
Psychosis Psychotic Disorders
Spastic tetraparesis Spastic tetraparesis rs35077384 10781099

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