MBOAT7 (membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7)

Gene

• Entrez ID: 79143
• Gene name: Membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7
• Gene symbol: MBOAT7
• Synonyms: BB1, LENG4, LPIAT, LPIAT1, LPLAT, LPLAT11, LRC4, MBOA7, MRT57, OACT7, hMBOA-7
• Chromosome: 19
• Chromosome location: 19q13.42
• Summary: This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs750035706	GCAGCCGCACTCGGCGGCAAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs886041059	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041060	C>G	Pathogenic	Splice donor variant
rs886041061	GGCCGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1600651595	TGCAGCCGCACTC>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031240	hsa-miR-19b-3p	Sequencing	20371350
MIRT041731	hsa-miR-484	CLASH	23622248
MIRT039960	hsa-miR-615-3p	CLASH	23622248
MIRT1135927	hsa-miR-1205	CLIP-seq
MIRT1135928	hsa-miR-1245b-3p	CLIP-seq
MIRT1135929	hsa-miR-1253	CLIP-seq
MIRT1135930	hsa-miR-203	CLIP-seq
MIRT1135931	hsa-miR-24	CLIP-seq
MIRT1135932	hsa-miR-3127-3p	CLIP-seq
MIRT1135933	hsa-miR-3153	CLIP-seq
MIRT1135934	hsa-miR-329	CLIP-seq
MIRT1135935	hsa-miR-3611	CLIP-seq
MIRT1135936	hsa-miR-362-3p	CLIP-seq
MIRT1135937	hsa-miR-3661	CLIP-seq
MIRT1135938	hsa-miR-3679-3p	CLIP-seq
MIRT1135939	hsa-miR-3941	CLIP-seq
MIRT1135940	hsa-miR-3977	CLIP-seq
MIRT1135941	hsa-miR-4281	CLIP-seq
MIRT1135942	hsa-miR-4284	CLIP-seq
MIRT1135943	hsa-miR-4328	CLIP-seq
MIRT1135944	hsa-miR-4330	CLIP-seq
MIRT1135945	hsa-miR-4527	CLIP-seq
MIRT1135946	hsa-miR-466	CLIP-seq
MIRT1135947	hsa-miR-4668-5p	CLIP-seq
MIRT1135948	hsa-miR-4672	CLIP-seq
MIRT1135949	hsa-miR-4717-5p	CLIP-seq
MIRT1135950	hsa-miR-4731-5p	CLIP-seq
MIRT1135951	hsa-miR-4740-3p	CLIP-seq
MIRT1135952	hsa-miR-603	CLIP-seq
MIRT1135953	hsa-miR-615-5p	CLIP-seq
MIRT1135954	hsa-miR-631	CLIP-seq
MIRT1135955	hsa-miR-665	CLIP-seq
MIRT1135956	hsa-miR-671-5p	CLIP-seq
MIRT1135957	hsa-miR-758	CLIP-seq
MIRT1135958	hsa-miR-1207-3p	CLIP-seq
MIRT1135959	hsa-miR-1207-5p	CLIP-seq
MIRT1135960	hsa-miR-1231	CLIP-seq
MIRT1135961	hsa-miR-2110	CLIP-seq
MIRT1135962	hsa-miR-2277-3p	CLIP-seq
MIRT1135963	hsa-miR-2467-3p	CLIP-seq
MIRT1135964	hsa-miR-3125	CLIP-seq
MIRT1135965	hsa-miR-3150a-3p	CLIP-seq
MIRT1135966	hsa-miR-3150b-3p	CLIP-seq
MIRT1135967	hsa-miR-3175	CLIP-seq
MIRT1135968	hsa-miR-3655	CLIP-seq
MIRT1135969	hsa-miR-3674	CLIP-seq
MIRT1135970	hsa-miR-3689d	CLIP-seq
MIRT1135971	hsa-miR-378	CLIP-seq
MIRT1135972	hsa-miR-378b	CLIP-seq
MIRT1135973	hsa-miR-378c	CLIP-seq
MIRT1135974	hsa-miR-378d	CLIP-seq
MIRT1135975	hsa-miR-378e	CLIP-seq
MIRT1135976	hsa-miR-378f	CLIP-seq
MIRT1135977	hsa-miR-378h	CLIP-seq
MIRT1135978	hsa-miR-378i	CLIP-seq
MIRT1135979	hsa-miR-3916	CLIP-seq
MIRT1135940	hsa-miR-3977	CLIP-seq
MIRT1135980	hsa-miR-422a	CLIP-seq
MIRT1135981	hsa-miR-4271	CLIP-seq
MIRT1135982	hsa-miR-4288	CLIP-seq
MIRT1135983	hsa-miR-4314	CLIP-seq
MIRT1135984	hsa-miR-4419a	CLIP-seq
MIRT1135985	hsa-miR-4510	CLIP-seq
MIRT1135986	hsa-miR-4514	CLIP-seq
MIRT1135987	hsa-miR-4522	CLIP-seq
MIRT1135945	hsa-miR-4527	CLIP-seq
MIRT1135988	hsa-miR-4638-3p	CLIP-seq
MIRT1135989	hsa-miR-4640-5p	CLIP-seq
MIRT1135990	hsa-miR-4667-5p	CLIP-seq
MIRT1135991	hsa-miR-4692	CLIP-seq
MIRT1135992	hsa-miR-4700-5p	CLIP-seq
MIRT1135993	hsa-miR-4725-3p	CLIP-seq
MIRT1135994	hsa-miR-4726-5p	CLIP-seq
MIRT1135950	hsa-miR-4731-5p	CLIP-seq
MIRT1135995	hsa-miR-4757-5p	CLIP-seq
MIRT1135996	hsa-miR-4763-3p	CLIP-seq
MIRT1135997	hsa-miR-4784	CLIP-seq
MIRT1135998	hsa-miR-542-3p	CLIP-seq
MIRT1135999	hsa-miR-632	CLIP-seq
MIRT1136000	hsa-miR-637	CLIP-seq
MIRT1136001	hsa-miR-765	CLIP-seq
MIRT1136002	hsa-miR-939	CLIP-seq
MIRT1136003	hsa-miR-940	CLIP-seq
MIRT2038617	hsa-miR-1197	CLIP-seq
MIRT1135959	hsa-miR-1207-5p	CLIP-seq
MIRT1135928	hsa-miR-1245b-3p	CLIP-seq
MIRT1135929	hsa-miR-1253	CLIP-seq
MIRT2038618	hsa-miR-1260	CLIP-seq
MIRT2038619	hsa-miR-1260b	CLIP-seq
MIRT2038620	hsa-miR-1285	CLIP-seq
MIRT2038621	hsa-miR-1321	CLIP-seq
MIRT2038622	hsa-miR-188-3p	CLIP-seq
MIRT2038623	hsa-miR-1913	CLIP-seq
MIRT2038624	hsa-miR-1915	CLIP-seq
MIRT2038625	hsa-miR-21	CLIP-seq
MIRT2038626	hsa-miR-2115	CLIP-seq
MIRT2038627	hsa-miR-2276	CLIP-seq
MIRT1135931	hsa-miR-24	CLIP-seq
MIRT1135963	hsa-miR-2467-3p	CLIP-seq
MIRT1135933	hsa-miR-3153	CLIP-seq
MIRT2038628	hsa-miR-3156-3p	CLIP-seq
MIRT2038629	hsa-miR-3187-5p	CLIP-seq
MIRT2038630	hsa-miR-324-3p	CLIP-seq
MIRT2038631	hsa-miR-326	CLIP-seq
MIRT1135934	hsa-miR-329	CLIP-seq
MIRT2038632	hsa-miR-330-5p	CLIP-seq
MIRT2038633	hsa-miR-3616-3p	CLIP-seq
MIRT1135936	hsa-miR-362-3p	CLIP-seq
MIRT1135937	hsa-miR-3661	CLIP-seq
MIRT2038634	hsa-miR-3667-3p	CLIP-seq
MIRT2038635	hsa-miR-3691-3p	CLIP-seq
MIRT2038636	hsa-miR-378g	CLIP-seq
MIRT1135939	hsa-miR-3941	CLIP-seq
MIRT2038637	hsa-miR-4270	CLIP-seq
MIRT1135941	hsa-miR-4281	CLIP-seq
MIRT1135942	hsa-miR-4284	CLIP-seq
MIRT2038638	hsa-miR-4289	CLIP-seq
MIRT2038639	hsa-miR-4301	CLIP-seq
MIRT2038640	hsa-miR-4313	CLIP-seq
MIRT1135944	hsa-miR-4330	CLIP-seq
MIRT2038641	hsa-miR-4436b-3p	CLIP-seq
MIRT2038642	hsa-miR-4441	CLIP-seq
MIRT2038643	hsa-miR-4466	CLIP-seq
MIRT2038644	hsa-miR-4486	CLIP-seq
MIRT1135946	hsa-miR-466	CLIP-seq
MIRT1135947	hsa-miR-4668-5p	CLIP-seq
MIRT1135948	hsa-miR-4672	CLIP-seq
MIRT1135949	hsa-miR-4717-5p	CLIP-seq
MIRT2038645	hsa-miR-4726-3p	CLIP-seq
MIRT1135950	hsa-miR-4731-5p	CLIP-seq
MIRT2038646	hsa-miR-4739	CLIP-seq
MIRT1135951	hsa-miR-4740-3p	CLIP-seq
MIRT2038647	hsa-miR-4747-5p	CLIP-seq
MIRT2038648	hsa-miR-4756-5p	CLIP-seq
MIRT1135996	hsa-miR-4763-3p	CLIP-seq
MIRT2038649	hsa-miR-4772-3p	CLIP-seq
MIRT2038650	hsa-miR-4786-3p	CLIP-seq
MIRT2038651	hsa-miR-4796-3p	CLIP-seq
MIRT2038652	hsa-miR-492	CLIP-seq
MIRT2038653	hsa-miR-516a-3p	CLIP-seq
MIRT2038654	hsa-miR-548n	CLIP-seq
MIRT2038655	hsa-miR-548t	CLIP-seq
MIRT2038656	hsa-miR-556-5p	CLIP-seq
MIRT2038657	hsa-miR-590-5p	CLIP-seq
MIRT1135952	hsa-miR-603	CLIP-seq
MIRT2038658	hsa-miR-610	CLIP-seq
MIRT2038659	hsa-miR-612	CLIP-seq
MIRT1135953	hsa-miR-615-5p	CLIP-seq
MIRT1135954	hsa-miR-631	CLIP-seq
MIRT1135955	hsa-miR-665	CLIP-seq
MIRT1135956	hsa-miR-671-5p	CLIP-seq
MIRT2038660	hsa-miR-675	CLIP-seq
MIRT2038618	hsa-miR-1260	CLIP-seq
MIRT2038619	hsa-miR-1260b	CLIP-seq
MIRT2038622	hsa-miR-188-3p	CLIP-seq
MIRT2038623	hsa-miR-1913	CLIP-seq
MIRT2038624	hsa-miR-1915	CLIP-seq
MIRT2038628	hsa-miR-3156-3p	CLIP-seq
MIRT2568059	hsa-miR-3188	CLIP-seq
MIRT2038630	hsa-miR-324-3p	CLIP-seq
MIRT2568060	hsa-miR-3691-5p	CLIP-seq
MIRT2038638	hsa-miR-4289	CLIP-seq
MIRT2038639	hsa-miR-4301	CLIP-seq
MIRT2038640	hsa-miR-4313	CLIP-seq
MIRT2568061	hsa-miR-4457	CLIP-seq
MIRT2038645	hsa-miR-4726-3p	CLIP-seq
MIRT2568062	hsa-miR-4731-3p	CLIP-seq
MIRT2568063	hsa-miR-4752	CLIP-seq
MIRT2568064	hsa-miR-4801	CLIP-seq
MIRT2038652	hsa-miR-492	CLIP-seq
MIRT2568065	hsa-miR-518a-5p	CLIP-seq
MIRT2568066	hsa-miR-527	CLIP-seq
MIRT2038618	hsa-miR-1260	CLIP-seq
MIRT2038619	hsa-miR-1260b	CLIP-seq
MIRT2038622	hsa-miR-188-3p	CLIP-seq
MIRT2038623	hsa-miR-1913	CLIP-seq
MIRT2038624	hsa-miR-1915	CLIP-seq
MIRT2038628	hsa-miR-3156-3p	CLIP-seq
MIRT2568059	hsa-miR-3188	CLIP-seq
MIRT2038630	hsa-miR-324-3p	CLIP-seq
MIRT2568060	hsa-miR-3691-5p	CLIP-seq
MIRT2038638	hsa-miR-4289	CLIP-seq
MIRT2038639	hsa-miR-4301	CLIP-seq
MIRT2038640	hsa-miR-4313	CLIP-seq
MIRT2568061	hsa-miR-4457	CLIP-seq
MIRT2038645	hsa-miR-4726-3p	CLIP-seq
MIRT2568062	hsa-miR-4731-3p	CLIP-seq
MIRT2568063	hsa-miR-4752	CLIP-seq
MIRT2568064	hsa-miR-4801	CLIP-seq
MIRT2038652	hsa-miR-492	CLIP-seq
MIRT2568065	hsa-miR-518a-5p	CLIP-seq
MIRT2568066	hsa-miR-527	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	21903422, 23510452
GO:0005783	Component	Endoplasmic reticulum	IDA	30959108
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IBA	21873635
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IMP	18094042
GO:0008374	Function	O-acyltransferase activity	IDA	18772128
GO:0008374	Function	O-acyltransferase activity	IMP	18094042
GO:0008374	Function	O-acyltransferase activity	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016746	Function	Transferase activity, transferring acyl groups	IBA	21873635
GO:0021591	Process	Ventricular system development	IEA
GO:0021819	Process	Layer formation in cerebral cortex	ISS
GO:0030258	Process	Lipid modification	IBA	21873635
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	IDA	18772128
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	IMP	32253259
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	TAS
GO:0036151	Process	Phosphatidylcholine acyl-chain remodeling	IDA	18772128
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane	IBA	21873635
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane	IDA	23510452
GO:0047144	Function	2-acylglycerol-3-phosphate O-acyltransferase activity	TAS
GO:0071617	Function	Lysophospholipid acyltransferase activity	IBA	21873635
GO:0071617	Function	Lysophospholipid acyltransferase activity	ISS
GO:0090207	Process	Regulation of triglyceride metabolic process	IMP	32253259
GO:0090207	Process	Regulation of triglyceride metabolic process	ISS

Other IDs

• MIM: 606048
• HGNC: 15505
• e!Ensembl: ENSG00000125505

Protein

• UniProt ID: Q96N66
• Protein name: Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 (EC 2.3.1.-) (1-acylglycerophosphatidylinositol O-acyltransferase) (Bladder and breast carcinoma-overexpressed gene 1 protein) (Leukocyte receptor cluster member 4) (Lysophosphatidyli
• Protein function: Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) leading to the production of a phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol
• PDB: 8ERC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03062	MBOAT	63 → 422	MBOAT, membrane-bound O-acyltransferase family	Family

• Sequence:

  MSPEEWTYLVVLLISIPIGFLFKKAGPGLKRWGAAAVGLGLTLFTCGPHTLHSLVTILGT
  WALIQAQPCSCHALALAWTFSYLLFFRALSLLGLPTPTPFTNAVQLLLTLKLVSLASEVQ
  DLHLAQRKEMASGFSKGPTLGLLPDVPSLMETLSYSYCYVGIMTGPFFRYRTYLDWLEQP
  FPGAVPSLRPLLRRAWPAPLFGLLFLLSSHLFPLEAVREDAFYARPLPARLFYMIPVFFA
  FRMRFYVAWIAAECGCIAAGFGAYPVAAKARAGGGPTLQCPPPSSPEKAASLEYDYETIR
  NIDCYSTDFCVRVRDGMRYWNMTVQWWLAQYIYKSAPARSYVLRSAWTMLLSAYWHGLHP
  GYYLSFLTIPLCLAAEGRLESALRGRLSPGGQKAWDWVHWFLKMRAYDYMCMGFVLLSLA
  DTLRYWASIYFCIHFLALAALGLGLALGGGSPSRRKAASQPTSLAPEKLREE

• Sequence length: 472

Pathways

KEGG:

Glycerophospholipid metabolism

Reactome:

Acyl chain remodelling of PI

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57	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	23097495
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease name	Disease term	dbSNP ID	References
Absence of septum pellucidum	Absence of septum pellucidum
Alcoholic liver cirrhosis	Liver Cirrhosis, Alcoholic		26482880
Central visual impairment	Central visual impairment
Cerebral atrophy	Cerebral atrophy
Cortical dysplasia	Cortical Dysplasia
Dyskinetic syndrome	Dyskinetic syndrome
Dyssomnia	Dyssomnias
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Mental depression	Depressive disorder	rs587778876, rs587778877
Motor delay	Clumsiness - motor delay
Myoclonic seizures	Generalized myoclonic seizures
Salaam seizures	Salaam Seizures
Sleep disorders	Sleep Disorders
Stereotyped behavior	Stereotyped Behavior