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MEIS2 (Meis homeobox 2)

Gene

4212

Meis homeobox 2

MEIS2

CPCMR, HsT18361, MRG1

15q14

This gene encodes a homeobox protein belonging to the TALE (`three amino acid loop extension`) family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essen

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs749346955	G>A,C	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs879255264	TCT>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1064793383	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1064796723	T>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1131691404	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555418998	T>C	Pathogenic	Splice acceptor variant
rs1555456994	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1567294240	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1595790647	AACT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant

Show/Hide all(165)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003546	hsa-miR-204-5p	Luciferase reporter assay, Western blot	20713703
MIRT024859	hsa-miR-215-5p	Microarray	19074876
MIRT026864	hsa-miR-192-5p	Microarray	19074876
MIRT440253	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440253	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1142806	hsa-miR-1193	CLIP-seq
MIRT1142807	hsa-miR-1236	CLIP-seq
MIRT1142808	hsa-miR-1304	CLIP-seq
MIRT1142809	hsa-miR-1827	CLIP-seq
MIRT1142810	hsa-miR-337-5p	CLIP-seq
MIRT1142811	hsa-miR-3692	CLIP-seq
MIRT1142812	hsa-miR-421	CLIP-seq
MIRT1142813	hsa-miR-4253	CLIP-seq
MIRT1142814	hsa-miR-4420	CLIP-seq
MIRT1142815	hsa-miR-4452	CLIP-seq
MIRT1142816	hsa-miR-4485	CLIP-seq
MIRT1142817	hsa-miR-4502	CLIP-seq
MIRT1142818	hsa-miR-4661-5p	CLIP-seq
MIRT1142819	hsa-miR-4709-5p	CLIP-seq
MIRT1142820	hsa-miR-4753-3p	CLIP-seq
MIRT1142821	hsa-miR-4768-5p	CLIP-seq
MIRT1142822	hsa-miR-4799-5p	CLIP-seq
MIRT1142823	hsa-miR-4803	CLIP-seq
MIRT1142824	hsa-miR-543	CLIP-seq
MIRT1142825	hsa-miR-548a-3p	CLIP-seq
MIRT1142826	hsa-miR-548e	CLIP-seq
MIRT1142827	hsa-miR-548f	CLIP-seq
MIRT1142828	hsa-miR-548p	CLIP-seq
MIRT1142829	hsa-miR-570	CLIP-seq
MIRT1142830	hsa-miR-922	CLIP-seq
MIRT1142831	hsa-let-7a	CLIP-seq
MIRT1142832	hsa-let-7b	CLIP-seq
MIRT1142833	hsa-let-7c	CLIP-seq
MIRT1142834	hsa-let-7d	CLIP-seq
MIRT1142835	hsa-let-7e	CLIP-seq
MIRT1142836	hsa-let-7f	CLIP-seq
MIRT1142837	hsa-let-7g	CLIP-seq
MIRT1142838	hsa-let-7i	CLIP-seq
MIRT1142807	hsa-miR-1236	CLIP-seq
MIRT1142839	hsa-miR-1292	CLIP-seq
MIRT1142808	hsa-miR-1304	CLIP-seq
MIRT1142840	hsa-miR-1305	CLIP-seq
MIRT1142809	hsa-miR-1827	CLIP-seq
MIRT1142841	hsa-miR-202	CLIP-seq
MIRT1142842	hsa-miR-30a	CLIP-seq
MIRT1142843	hsa-miR-30b	CLIP-seq
MIRT1142844	hsa-miR-30c	CLIP-seq
MIRT1142845	hsa-miR-30d	CLIP-seq
MIRT1142846	hsa-miR-30e	CLIP-seq
MIRT1142847	hsa-miR-3122	CLIP-seq
MIRT1142848	hsa-miR-3148	CLIP-seq
MIRT1142849	hsa-miR-3190	CLIP-seq
MIRT1142810	hsa-miR-337-5p	CLIP-seq
MIRT1142850	hsa-miR-376c	CLIP-seq
MIRT1142851	hsa-miR-3911	CLIP-seq
MIRT1142852	hsa-miR-3913-5p	CLIP-seq
MIRT1142853	hsa-miR-4458	CLIP-seq
MIRT1142854	hsa-miR-4471	CLIP-seq
MIRT1142816	hsa-miR-4485	CLIP-seq
MIRT1142855	hsa-miR-4500	CLIP-seq
MIRT1142818	hsa-miR-4661-5p	CLIP-seq
MIRT1142820	hsa-miR-4753-3p	CLIP-seq
MIRT1142821	hsa-miR-4768-5p	CLIP-seq
MIRT1142856	hsa-miR-4789-3p	CLIP-seq
MIRT1142822	hsa-miR-4799-5p	CLIP-seq
MIRT1142823	hsa-miR-4803	CLIP-seq
MIRT1142824	hsa-miR-543	CLIP-seq
MIRT1142825	hsa-miR-548a-3p	CLIP-seq
MIRT1142826	hsa-miR-548e	CLIP-seq
MIRT1142827	hsa-miR-548f	CLIP-seq
MIRT1142828	hsa-miR-548p	CLIP-seq
MIRT1142829	hsa-miR-570	CLIP-seq
MIRT1142857	hsa-miR-648	CLIP-seq
MIRT1142858	hsa-miR-98	CLIP-seq
MIRT2040661	hsa-miR-623	CLIP-seq
MIRT1142807	hsa-miR-1236	CLIP-seq
MIRT1142808	hsa-miR-1304	CLIP-seq
MIRT2270382	hsa-miR-142-5p	CLIP-seq
MIRT1142809	hsa-miR-1827	CLIP-seq
MIRT1142810	hsa-miR-337-5p	CLIP-seq
MIRT1142811	hsa-miR-3692	CLIP-seq
MIRT1142812	hsa-miR-421	CLIP-seq
MIRT1142816	hsa-miR-4485	CLIP-seq
MIRT1142819	hsa-miR-4709-5p	CLIP-seq
MIRT1142820	hsa-miR-4753-3p	CLIP-seq
MIRT2270383	hsa-miR-4762-3p	CLIP-seq
MIRT1142821	hsa-miR-4768-5p	CLIP-seq
MIRT1142856	hsa-miR-4789-3p	CLIP-seq
MIRT1142822	hsa-miR-4799-5p	CLIP-seq
MIRT1142823	hsa-miR-4803	CLIP-seq
MIRT1142825	hsa-miR-548a-3p	CLIP-seq
MIRT1142826	hsa-miR-548e	CLIP-seq
MIRT1142827	hsa-miR-548f	CLIP-seq
MIRT1142831	hsa-let-7a	CLIP-seq
MIRT1142832	hsa-let-7b	CLIP-seq
MIRT1142833	hsa-let-7c	CLIP-seq
MIRT1142834	hsa-let-7d	CLIP-seq
MIRT1142835	hsa-let-7e	CLIP-seq
MIRT1142836	hsa-let-7f	CLIP-seq
MIRT1142837	hsa-let-7g	CLIP-seq
MIRT1142838	hsa-let-7i	CLIP-seq
MIRT1142841	hsa-miR-202	CLIP-seq
MIRT1142842	hsa-miR-30a	CLIP-seq
MIRT1142843	hsa-miR-30b	CLIP-seq
MIRT1142844	hsa-miR-30c	CLIP-seq
MIRT1142845	hsa-miR-30d	CLIP-seq
MIRT1142846	hsa-miR-30e	CLIP-seq
MIRT1142853	hsa-miR-4458	CLIP-seq
MIRT1142855	hsa-miR-4500	CLIP-seq
MIRT1142818	hsa-miR-4661-5p	CLIP-seq
MIRT1142824	hsa-miR-543	CLIP-seq
MIRT1142828	hsa-miR-548p	CLIP-seq
MIRT1142858	hsa-miR-98	CLIP-seq
MIRT1142831	hsa-let-7a	CLIP-seq
MIRT1142832	hsa-let-7b	CLIP-seq
MIRT1142833	hsa-let-7c	CLIP-seq
MIRT1142834	hsa-let-7d	CLIP-seq
MIRT1142835	hsa-let-7e	CLIP-seq
MIRT1142836	hsa-let-7f	CLIP-seq
MIRT1142837	hsa-let-7g	CLIP-seq
MIRT1142838	hsa-let-7i	CLIP-seq
MIRT2569564	hsa-miR-101	CLIP-seq
MIRT1142840	hsa-miR-1305	CLIP-seq
MIRT2569565	hsa-miR-144	CLIP-seq
MIRT1142841	hsa-miR-202	CLIP-seq
MIRT1142842	hsa-miR-30a	CLIP-seq
MIRT1142843	hsa-miR-30b	CLIP-seq
MIRT1142844	hsa-miR-30c	CLIP-seq
MIRT1142845	hsa-miR-30d	CLIP-seq
MIRT1142846	hsa-miR-30e	CLIP-seq
MIRT2569566	hsa-miR-338-5p	CLIP-seq
MIRT2569567	hsa-miR-3664-5p	CLIP-seq
MIRT1142811	hsa-miR-3692	CLIP-seq
MIRT1142850	hsa-miR-376c	CLIP-seq
MIRT2569568	hsa-miR-4251	CLIP-seq
MIRT1142853	hsa-miR-4458	CLIP-seq
MIRT1142855	hsa-miR-4500	CLIP-seq
MIRT1142818	hsa-miR-4661-5p	CLIP-seq
MIRT2569569	hsa-miR-4663	CLIP-seq
MIRT2569570	hsa-miR-4666-3p	CLIP-seq
MIRT2569571	hsa-miR-4680-5p	CLIP-seq
MIRT1142820	hsa-miR-4753-3p	CLIP-seq
MIRT2569572	hsa-miR-4760-3p	CLIP-seq
MIRT1142856	hsa-miR-4789-3p	CLIP-seq
MIRT2569573	hsa-miR-490-5p	CLIP-seq
MIRT2569574	hsa-miR-494	CLIP-seq
MIRT2569575	hsa-miR-539	CLIP-seq
MIRT1142824	hsa-miR-543	CLIP-seq
MIRT1142828	hsa-miR-548p	CLIP-seq
MIRT2569576	hsa-miR-582-5p	CLIP-seq
MIRT2569577	hsa-miR-630	CLIP-seq
MIRT2569578	hsa-miR-633	CLIP-seq
MIRT1142830	hsa-miR-922	CLIP-seq
MIRT1142858	hsa-miR-98	CLIP-seq
MIRT2569566	hsa-miR-338-5p	CLIP-seq
MIRT1142811	hsa-miR-3692	CLIP-seq
MIRT2569568	hsa-miR-4251	CLIP-seq
MIRT1142818	hsa-miR-4661-5p	CLIP-seq
MIRT2569569	hsa-miR-4663	CLIP-seq
MIRT2569570	hsa-miR-4666-3p	CLIP-seq
MIRT2569572	hsa-miR-4760-3p	CLIP-seq
MIRT2569573	hsa-miR-490-5p	CLIP-seq
MIRT2569575	hsa-miR-539	CLIP-seq
MIRT1142828	hsa-miR-548p	CLIP-seq
MIRT1142830	hsa-miR-922	CLIP-seq

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	10764806
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	10764806
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	21873635
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	10764806
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001654	Process	Eye development	IBA	21873635
GO:0003677	Function	DNA binding	IDA	26550823
GO:0005515	Function	Protein binding	IPI	22458338, 25416956, 31515488
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007420	Process	Brain development	IBA	21873635
GO:0008134	Function	Transcription factor binding	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	IBA	21873635
GO:0008542	Process	Visual learning	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009880	Process	Embryonic pattern specification	IBA	21873635
GO:0009887	Process	Animal organ morphogenesis	IBA	21873635
GO:0031016	Process	Pancreas development	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	ISS
GO:0045931	Process	Positive regulation of mitotic cell cycle	IDA	26512644
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10764806
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070848	Process	Response to growth factor	IEA
GO:0110024	Process	Positive regulation of cardiac muscle myoblast proliferation	IDA	26512644
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601740	7001	ENSG00000134138

Protein

UniProt ID

O14770

Protein name

Homeobox protein Meis2 (Meis1-related protein 1)

Protein function

Involved in transcriptional regulation. Binds to HOX or PBX proteins to form dimers, or to a DNA-bound dimer of PBX and HOX proteins and thought to have a role in stabilization of the homeoprotein-DNA complex. Isoform 3 is required for the activ

PDB

3K2A , 4XRM , 5BNG , 5EG0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16493	Meis_PKNOX_N	110 → 194	N-terminal of Homeobox Meis and PKNOX1	Family
PF05920	Homeobox_KN	294 → 333	Homeobox KN domain	Family

Sequence

MAQRYDELPHYGGMDGVGVPASMYGDPHAPRPIPPVHHLNHGPPLHATQHYGAHAPHPNV
MPASMGSAVNDALKRDKDAIYGHPLFPLLALVFEKCELATCTPREPGVAGGDVCSSDSFN
EDIAVFAKQVRAEKPLFSSNPELDNLMIQAIQVLRFHLLELEKVHELCDNFCHRYISCLK
GKMPIDLVIDERDGSSKSDHEELSGSSTNLADHNPSSWRDHDDATSTHSAGTPGPSSGGH
ASQSGDNSSEQGDGLDNSVASPGTGDDDDPDKDKKRQKKRGIFPKVATNIMRAWLFQHLT
HPYPSEEQKKQLAQDTGLTILQVNNWFINARRRIVQPMIDQSNRAGFLLDPSVSQGAAYS
PEGQPMGSFVLDGQQHMGIRPAGLQSMPGDYVSQGGPMGMSMAQPSYTPPQMTPHPTQLR
HGPPMHSYLPSHPHHPAMMMHGGPPTHPGMTMSAQSPTMLNSVDPNVGGQVMDIHAQ

Sequence length

477

Interactions

View interactions

Associated diseases

Show/Hide Causal Diseases (8)

Causal
Disease name	Disease term	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Autism	Autistic Disorder, 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
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049	30055086
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
Mental retardation	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	24678003, 30055086
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
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (11)

Unknown
Disease name	Disease term	dbSNP ID	References
15q14 deletion syndrome	CHROMOSOME 15q14 DELETION SYNDROME, 15q14 microdeletion syndrome		17163532, 18561338, 24678003, 21504564, 20425846, 18458017
Acne	Acne
Aortic coarctation	Aortic coarctation
Cardiac defects	Cardiac defects		24678003
Cleft palate, cardiac defects, and mental retardation	Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies		30055086
Dwarfism	Dwarfism
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Laryngomalacia	Laryngomalacia
Oral cleft	Oral cleft		30055086
Syndactyly of the toes	2-3 toe syndactyly

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