GABBR2 (gamma-aminobutyric acid type B receptor subunit 2)

Gene

• Entrez ID: 9568
• Gene name: Gamma-aminobutyric acid type B receptor subunit 2
• Gene symbol: GABBR2
• Synonyms: DEE59, EIEE59, GABABR2, GPR51, GPRC3B, HG20, HRIHFB2099, NDPLHS
• Chromosome: 9
• Chromosome location: 9q22.33
• Summary: The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the re

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2184026	C>G,T	Risk-factor	Genic upstream transcript variant, intron variant
rs2491397	C>T	Risk-factor	Intron variant
rs3750344	T>C,G	Risk-factor	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs922847767	C>T	Pathogenic	Missense variant, coding sequence variant
rs1554689313	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554689315	A>T	Pathogenic	Coding sequence variant, missense variant
rs1554689319	C>A	Pathogenic	Coding sequence variant, missense variant
rs1554689320	C>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022745	hsa-miR-124-3p	Microarray	18668037
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT613027	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	27418678
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	27418678
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	27418678
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	27418678
MIRT613025	hsa-miR-507	HITS-CLIP	27418678
MIRT613025	hsa-miR-507	HITS-CLIP	27418678
MIRT613024	hsa-miR-557	HITS-CLIP	27418678
MIRT613024	hsa-miR-557	HITS-CLIP	27418678
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT1009515	hsa-miR-1825	CLIP-seq
MIRT1009516	hsa-miR-1915	CLIP-seq
MIRT1009517	hsa-miR-1972	CLIP-seq
MIRT1009518	hsa-miR-3120-5p	CLIP-seq
MIRT1009519	hsa-miR-345	CLIP-seq
MIRT1009520	hsa-miR-3926	CLIP-seq
MIRT1009521	hsa-miR-4726-3p	CLIP-seq
MIRT1009522	hsa-miR-541	CLIP-seq
MIRT1009523	hsa-miR-548s	CLIP-seq
MIRT1009524	hsa-miR-654-5p	CLIP-seq
MIRT1999113	hsa-miR-1207-5p	CLIP-seq
MIRT1999114	hsa-miR-1909	CLIP-seq
MIRT1999115	hsa-miR-224	CLIP-seq
MIRT1999116	hsa-miR-3202	CLIP-seq
MIRT1999117	hsa-miR-3661	CLIP-seq
MIRT1999118	hsa-miR-3973	CLIP-seq
MIRT1999119	hsa-miR-4533	CLIP-seq
MIRT1999120	hsa-miR-4652-5p	CLIP-seq
MIRT1999121	hsa-miR-4763-3p	CLIP-seq
MIRT1999122	hsa-miR-520g	CLIP-seq
MIRT1999123	hsa-miR-520h	CLIP-seq
MIRT1999124	hsa-miR-631	CLIP-seq
MIRT2232804	hsa-miR-1208	CLIP-seq
MIRT2232805	hsa-miR-1263	CLIP-seq
MIRT2232806	hsa-miR-147	CLIP-seq
MIRT1009515	hsa-miR-1825	CLIP-seq
MIRT1009516	hsa-miR-1915	CLIP-seq
MIRT1009517	hsa-miR-1972	CLIP-seq
MIRT2232807	hsa-miR-2110	CLIP-seq
MIRT2232808	hsa-miR-2113	CLIP-seq
MIRT1009518	hsa-miR-3120-5p	CLIP-seq
MIRT2232809	hsa-miR-3150a-3p	CLIP-seq
MIRT2232810	hsa-miR-3179	CLIP-seq
MIRT2232811	hsa-miR-3183	CLIP-seq
MIRT1999116	hsa-miR-3202	CLIP-seq
MIRT1009519	hsa-miR-345	CLIP-seq
MIRT2232812	hsa-miR-4260	CLIP-seq
MIRT2232813	hsa-miR-4271	CLIP-seq
MIRT2232814	hsa-miR-4420	CLIP-seq
MIRT2232815	hsa-miR-4468	CLIP-seq
MIRT2232816	hsa-miR-452	CLIP-seq
MIRT2232817	hsa-miR-4676-3p	CLIP-seq
MIRT2232818	hsa-miR-4723-3p	CLIP-seq
MIRT2232819	hsa-miR-4725-3p	CLIP-seq
MIRT1009521	hsa-miR-4726-3p	CLIP-seq
MIRT2232820	hsa-miR-4747-5p	CLIP-seq
MIRT2232821	hsa-miR-4753-3p	CLIP-seq
MIRT2232822	hsa-miR-4782-5p	CLIP-seq
MIRT2232823	hsa-miR-520d-5p	CLIP-seq
MIRT2232824	hsa-miR-524-5p	CLIP-seq
MIRT2232825	hsa-miR-9	CLIP-seq
MIRT2232826	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IBA	21873635
GO:0004965	Function	G protein-coupled GABA receptor activity	IDA	9872316
GO:0005515	Function	Protein binding	IPI	16724110, 24305054, 24658140, 32555460, 32580208, 32581365
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	9872316, 15304491
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007194	Process	Negative regulation of adenylate cyclase activity	TAS	10328880
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA	21873635
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	9872316
GO:0007268	Process	Chemical synaptic transmission	TAS	9872316
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IBA	21873635
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IPI	9872316
GO:0043005	Component	Neuron projection	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	15304491
GO:0150099	Process	Neuron-glial cell signaling	ISS
GO:1902710	Component	GABA receptor complex	IDA	15304491

Other IDs

• MIM: 607340
• HGNC: 4507
• e!Ensembl: ENSG00000136928

Protein

• UniProt ID: O75899
• Protein name: Gamma-aminobutyric acid type B receptor subunit 2 (GABA-B receptor 2) (GABA-B-R2) (GABA-BR2) (GABABR2) (Gb2) (G-protein coupled receptor 51) (HG20)
• Protein function: Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054, PubMed:9872316, PubMed:9872744). Within the heterodimeric GABA receptor, only GABB
• PDB: 4F11, 4F12, 4MQE, 4MQF, 4MR7, 4MR8, 4MR9, 4MRM, 4MS1, 4MS3, 4MS4, 4PAS, 6M8R, 6OCP, 6UO8, 6UO9, 6UOA, 6VJM, 6W2X, 6WIV, 7C7Q, 7C7S, 7CA3, 7CA5, 7CUM, 7EB2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	76 → 435	Receptor family ligand binding region	Family
  PF00003	7tm_3	493 → 746	7 transmembrane sweet-taste receptor of 3 GCPR	Family
  PF18455	GBR2_CC	779 → 817	Gamma-aminobutyric acid type B receptor subunit 2 coiled-coil domain	Coiled-coil

• Sequence:

  MASPRSSGQPGPPPPPPPPPARLLLLLLLPLLLPLAPGAWGWARGAPRPPPSSPPLSIMG
  LMPLTKEVAKGSIGRGVLPAVELAIEQIRNESLLRPYFLDLRLYDTECDNAKGLKAFYDA
  IKYGPNHLMVFGGVCPSVTSIIAESLQGWNLVQLSFAATTPVLADKKKYPYFFRTVPSDN
  AVNPAILKLLKHYQWKRVGTLTQDVQRFSEVRNDLTGVLYGEDIEISDTESFSNDPCTSV
  KKLKGNDVRIILGQFDQNMAAKVFCCAYEENMYGSKYQWIIPGWYEPSWWEQVHTEANSS
  RCLRKNLLAAMEGYIGVDFEPLSSKQIKTISGKTPQQYEREYNNKRSGVGPSKFHGYAYD
  GIWVIAKTLQRAMETLHASSRHQRIQDFNYTDHTLGRIILNAMNETNFFGVTGQVVFRNG
  ERMGTIKFTQFQDSREVKVGEYNAVADTLEIINDTIRFQGSEPPKDKTIILEQLRKISLP
  LYSILSALTILGMIMASAFLFFNIKNRNQKLIKMSSPYMNNLIILGGMLSYASIFLFGLD
  GSFVSEKTFETLCTVRTWILTVGYTTAFGAMFAKTWRVHAIFKNVKMKKKIIKDQKLLVI
  VGGMLLIDLCILICWQAVDPLRRTVEKYSMEPDPAGRDISIRPLLEHCENTHMTIWLGIV
  YAYKGLLMLFGCFLAWETRNVSIPALNDSKYIGMSVYNVGIMCIIGAAVSFLTRDQPNVQ
  FCIVALVIIFCSTITLCLVFVPKLITLRTNPDAATQNRRFQFTQNQKKEDSKTSTSVTSV
  NQASTSRLEGLQSENHRLRMKITELDKDLEEVTMQLQDTPEKTTYIKQNHYQELNDILNL
  GNFTESTDGGKAILKNHLDQNPQLQWNTTEPSRTCKDPIEDINSPEHIQRRLSLQLPILH
  HAYLPSIGGVDASCVSPCVSPTASPRHRHVPPSFRVMVSGL

• Sequence length: 941

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
GABAergic synapse
Taste transduction
Estrogen signaling pathway
GnRH secretion
Morphine addiction

Reactome:

Activation of G protein gated Potassium channels
G alpha (i) signalling events
Class C/3 (Metabotropic glutamate/pheromone receptors)
GABA B receptor activation
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	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	19002745
Developmental regression	Developmental regression	rs1224421127
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	29377213, 28856709, 25262651, 29100083, 28856709, 29369404
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
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
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
Neurodevelopmental disorder with motor impairment and absent language	NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS	rs1057519436, rs753242774, rs1060499733, rs1085307451, rs922847767, rs1553706775, rs1553706799, rs1554689313, rs1576517675	28856709, 26740508, 29369404, 29377213
Rett syndrome	Rett Syndrome, Rett Syndrome, Atypical, Atypical Rett syndrome	rs606231129, rs122460157, rs61749700, rs122460158, rs122460159, rs62641235, rs28934904, rs28934905, rs28934906, rs28934907, rs61750240, rs63094662, rs267608434, rs61751362, rs28934908, rs28935468, rs61748421, rs61749721, rs61748396, rs104894864, rs28935168, rs61749715, rs179363900, rs179363901, rs61749743, rs121913678, rs267606826, rs267606828, rs267606827, rs138747073, rs193922679, rs61751439, rs61748408, rs61749724, rs61749747, rs61750241, rs398124204, rs267608376, rs267608559, rs61754428, rs61751457, rs267608380, rs267608377, rs267608378, rs267608381, rs61752372, rs267608425, rs267608424, rs61752375, rs267608385, rs267608426, rs267608567, rs267608568, rs267608569, rs267608340, rs267608379, rs267608348, rs267608571, rs267608389, rs267608382, rs267608573, rs63749023, rs267608574, rs63749024, rs267608576, rs267608372, rs267608577, rs267608578, rs267608579, rs267608580, rs267608329, rs267608584, rs267608582, rs61754419, rs267608585, rs267608586, rs267608327, rs267608587, rs63749748, rs63583161, rs63749029, rs386134271, rs267608588, rs63009262, rs267608590, rs267608373, rs63749030, rs267608332, rs267608591, rs267608593, rs267608592, rs267608596, rs267608339, rs267608597, rs267608334, rs267608601, rs267608600, rs267608589, rs267608603, rs61752992, rs267608606, rs267608607, rs267608349, rs267608343, rs267608609, rs267608369, rs267608383, rs267608427, rs267608333, rs267608403, rs63749018, rs56268439, rs267608338, rs267608610, rs61753011, rs267608612, rs267608428, rs267608613, rs267608614, rs267608615, rs61753965, rs63749038, rs267608351, rs267608617, rs267608374, rs63749064, rs61754430, rs61753972, rs267608624, rs267608625, rs63749065, rs61753979, rs267608627, rs61754431, rs267608634, rs267608637, rs267608638, rs267608640, rs267608641, rs267608337, rs267608399, rs267608642, rs61754432, rs61754436, rs61754437, rs61754438, rs267608438, rs1557137871, rs61754441, rs63749009, rs267608442, rs267608443, rs267608444, rs267608445, rs267608446, rs267608405, rs61754448, rs61754421, rs267608449, rs61754452, rs61754453, rs61754455, rs63749010, rs61754456, rs61754457, rs61754458, rs267608452, rs61754459, rs267608398, rs61755761, rs63749008, rs61755762, rs267608455, rs61755763, rs267608457, rs267608387, rs267608469, rs61748383, rs61748384, rs267608470, rs61748389, rs267608471, rs61748390, rs61748391, rs61748393, rs267608475, rs267608476, rs61748395, rs61748398, rs61748399, rs61748400, rs62952161, rs61748402, rs61748403, rs61748404, rs61748406, rs61748407, rs61748410, rs61754424, rs267608483, rs267608482, rs267608484, rs61748411, rs267608485, rs267608486, rs61748415, rs61748416, rs61748417, rs61748418, rs267608487, rs267608488, rs267608489, rs61748420, rs61748425, rs267608416, rs61748428, rs61749702, rs61749703, rs267608495, rs267608496, rs61749707, rs61754425, rs61749708, rs61749709, rs267608417, rs61749717, rs61749718, rs267608503, rs267608506, rs267608507, rs61749726, rs61749727, rs61749728, rs61749729, rs267608386, rs62641234, rs267608510, rs61749734, rs267608513, rs267608514, rs61749736, rs61749739, rs63260260, rs61749741, rs61749744, rs267608518, rs267608519, rs61749749, rs267608520, rs61749750, rs1557136523, rs1557136549, rs61750225, rs61749752, rs267608521, rs61749751, rs61750232, rs267608523, rs61750235, rs63259763, rs267608524, rs61754426, rs267608525, rs267608526, rs61750238, rs62931162, rs267608529, rs61750242, rs63749012, rs267608530, rs61750247, rs61750249, rs267608531, rs61750256, rs267608535, rs61750259, rs267608536, rs267608538, rs61751361, rs61751364, rs267608540, rs267608541, rs61751367, rs62701461, rs267608543, rs267608544, rs61751373, rs61749723, rs267608548, rs61751440, rs267608551, rs61751441, rs61751443, rs61754427, rs61751444, rs61751449, rs61751450, rs61751456, rs267608558, rs267608623, rs267608433, rs267608643, rs267608395, rs267608644, rs62653623, rs62643608, rs267608646, rs62643614, rs61753251, rs267608453, rs267608468, rs267608493, rs267608505, rs61750250, rs267608412, rs267608411, rs267608463, rs267608458, rs267608464, rs267608465, rs267608430, rs267608650, rs267608657, rs267608474, rs267608479, rs1557135314, rs587783132, rs587783629, rs587783631, rs587783635, rs587783636, rs587783638, rs587783640, rs587783641, rs587783642, rs587783643, rs727503935, rs727505391, rs786204307, rs786204316, rs786205000, rs398124202, rs786205001, rs786205003, rs786205004, rs786205005, rs786204998, rs786205007, rs786205008, rs786205009, rs786205010, rs786205011, rs786204999, rs1557134378, rs1557134716, rs1557134770, rs1557134779, rs1557134923, rs1557135016, rs1557135076, rs1557135125, rs1557135128, rs1557135137, rs1557135197, rs1557135212, rs1557135213, rs1557135218, rs1557135225, rs1557135251, rs1557135268, rs1557135285, rs1557135295, rs1557135299, rs1557135300, rs1557135315, rs1557135338, rs1557135350, rs1557135400, rs786205020, rs1557135423, rs1557135426, rs1557135447, rs1557135461, rs1557135499, rs786205019, rs1557135541, rs1557135571, rs1557135575, rs1557135596, rs1557135603, rs1557135622, rs1557135670, rs1557135728, rs1557135788, rs1557135847, rs1557135893, rs1557135907, rs1557136013, rs1557136146, rs786205031, rs786205030, rs786205028, rs786205027, rs1557136493, rs786205025, rs786205049, rs786205048, rs786205047, rs786205042, rs786205043, rs786205045, rs786205038, rs786204983, rs786204984, rs786204986, rs786204988, rs786204989, rs786204990, rs786204992, rs786204966, rs786204968, rs786204969, rs786204970, rs786204972, rs786204975, rs786204976, rs786204981, rs1557134481, rs1557135110, rs786205895, rs786205892, rs796052474, rs796052462, rs796052463, rs796052464, rs1555321334, rs796052469, rs1557134720, rs1557135418, rs1557135666, rs797045695, rs797045694, rs797045693, rs869312700, rs878853312, rs879255530, rs767961672, rs1057516138, rs1057518165, rs1057517905, rs1057518718, rs1557135039, rs1557136374, rs1057519543, rs1057520663, rs1057520780, rs1064792899, rs1064792898, rs1060499620, rs1060499621, rs1557134621, rs1064793576, rs1064797104, rs1064797186, rs1557137675, rs1555321302, rs1555321337, rs1557135664, rs1557137042, rs922847767, rs1555321206, rs1555321301, rs1555321311, rs1555321294, rs1452295073, rs1555321237, rs1554504681, rs1555321351, rs1557135929, rs1555321382, rs1557150841, rs1555321345, rs1555321405, rs786205486, rs1555321380, rs1557135793, rs1555321353, rs1555321308, rs1557136332, rs1557136818, rs1557135346, rs1566445169, rs1566445489, rs764343290, rs1569548274, rs1569548428, rs1603307859, rs1603309190, rs1603310910, rs1603308287, rs1594384015, rs1603308358, rs1594382746, rs1594383704, rs1603307865, rs1603308963, rs1603309480, rs1603309620, rs1603341328, rs1594383798, rs1594384249, rs1603310755, rs1881788747, rs1240929961, rs886041744, rs1881816066, rs1881828200, rs2065919863, rs1881779084	28856709, 29377213, 28856709
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	30166627
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	26198764, 30285260
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Camptodactyly of fingers	Clinodactyly of the 5th finger
Cerebral cortical atrophy	Cerebral cortical atrophy
Dyssomnia	Dyssomnias
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Macrostomia	Macrostomia
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	24022508
Movement disorders	Movement Disorders
Nephrolithiasis	Nephrolithiasis
Sleep disorders	Sleep Disorders