ASXL3 (ASXL transcriptional regulator 3)

Gene

• Entrez ID: 80816
• Gene name: ASXL transcriptional regulator 3
• Gene symbol: ASXL3
• Synonyms (NCBI Gene): BRPS, KIAA1713
• Disease Acronyms (UniProt): BRPS
• Chromosome: 18
• Chromosome location: 18q12.1
• Summary: This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcrip

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs190659120	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs376997378	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs377619533	C>A,T	Not-provided, likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs587777061	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777062	C>T	Pathogenic	Stop gained, coding sequence variant
rs747712363	C>-,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs762650572	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs764053964	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs797045317	ACAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs868044680	C>T	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs869312696	C>A	Pathogenic	Coding sequence variant, stop gained
rs886039650	G>T	Pathogenic	Coding sequence variant, stop gained
rs886041652	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041753	->A	Pathogenic	Coding sequence variant, frameshift variant
rs886041785	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041846	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043487	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519005	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057519498	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1057524831	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1060499602	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1064793765	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064796742	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796972	C>T	Pathogenic	Stop gained, coding sequence variant
rs1085307640	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1179499890	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1204482456	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1555741188	->GAAA	Pathogenic	Frameshift variant, coding sequence variant
rs1555742010	ACAACAG>TCACAT	Pathogenic	Frameshift variant, coding sequence variant
rs1555742087	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555742148	->T	Pathogenic	Stop gained, coding sequence variant
rs1555742167	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555742212	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555742232	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555742333	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555742500	GACA>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs1555743003	G>A	Pathogenic	Splice donor variant
rs1555743005	T>A	Likely-pathogenic	Splice donor variant
rs1555743845	->AACA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555743954	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555744039	GTCTTGATTCCCCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555744086	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555744175	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555744178	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555744217	->AACA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555744282	C>T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs1555744396	->ACCAG	Pathogenic	Frameshift variant, coding sequence variant
rs1555744989	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555745616	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568359734	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568359816	T>A	Pathogenic	Coding sequence variant, stop gained
rs1568359887	G>T	Pathogenic	Coding sequence variant, stop gained
rs1568360291	C>T	Pathogenic	Coding sequence variant, stop gained
rs1568365439	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1568369744	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1599364162	AA>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1599562180	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599563269	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599563619	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599563995	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599564118	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599565958	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1599566942	->AG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1599570895	->CTTT	Pathogenic	Coding sequence variant, frameshift variant
rs1599571406	GT>-	Pathogenic	Coding sequence variant, stop gained
rs1599571722	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1599572151	->CTTG	Pathogenic	Coding sequence variant, frameshift variant
rs1599572831	AT>G	Pathogenic	Coding sequence variant, frameshift variant
rs1599572974	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599573656	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599573759	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1599574018	ACTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599575096	TCTA>-	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024184	hsa-miR-221-3p	Sequencing	20371350
MIRT029464	hsa-miR-26b-5p	Microarray	19088304
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624649	hsa-miR-708-3p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT460736	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT460735	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT460734	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT460733	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT460732	hsa-miR-4779	PAR-CLIP	23592263
MIRT460731	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT460730	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT460729	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT460728	hsa-miR-4533	PAR-CLIP	23592263
MIRT460727	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT460726	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT460725	hsa-miR-4271	PAR-CLIP	23592263
MIRT460724	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT460723	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624649	hsa-miR-708-3p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT460736	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT460735	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT460734	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT460733	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT460732	hsa-miR-4779	PAR-CLIP	23592263
MIRT460731	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT460730	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT460729	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT460728	hsa-miR-4533	PAR-CLIP	23592263
MIRT460727	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT460726	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT460725	hsa-miR-4271	PAR-CLIP	23592263
MIRT460724	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT460723	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT1921524	hsa-miR-1182	CLIP-seq
MIRT1921525	hsa-miR-193a-5p	CLIP-seq
MIRT1921526	hsa-miR-607	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0006351	Process	Transcription, DNA-templated	IEA
GO:0009887	Process	Animal organ morphogenesis	IBA	21873635
GO:0035517	Component	PR-DUB complex	IBA	21873635
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0051055	Process	Negative regulation of lipid biosynthetic process	IDA	25450400

Other IDs

• MIM: 615115
• HGNC: 29357
• e!Ensembl: ENSG00000141431

Protein

• UniProt ID: Q9C0F0
• Protein name: Putative Polycomb group protein ASXL3 (Additional sex combs-like protein 3)
• Protein function: Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05066	HARE-HTH	10 → 81	HB1, ASXL, restriction endonuclease HTH domain	Family
  PF13919	ASXH	235 → 360	Asx homology domain	Domain
  PF13922	PHD_3	2183 → 2246	PHD domain of transcriptional enhancer, Asx	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in pancreatic islets, testis, neuroblastoma, head and neck tumor. {ECO:0000269|PubMed:15138607}.
• Sequence:

  MKDKRKKKDRTWAEAARLALEKHPNSPMTAKQILEVIQKEGLKETSGTSPLACLNAMLHT
  NTRIGDGTFFKIPGKSGLYALKKEESSCPADGTLDLVCESELDGTDMAEANAHGEENGVC
  SKQVTDEASSTRDSSLTNTAVQSKLVSSFQQHTKKALKQALRQQQKRRNGVSMMVNKTVP
  RVVLTPLKVSDEQSDSPSGSESKNGEADSSDKEMKHGQKSPTGKQTSQHLKRLKKSGLGH
  LKWTKAEDIDIETPGSILVNTNLRALINKHTFASLPQHFQQYLLLLLPEVDRQMGSDGIL
  RLSTSALNNEFFAYAAQGWKQRLAEGEFTPEMQLRIRQEIEKEKKTEPWKEKFFERFYGE
  KLGMSREESVKLTTGPNNAGAQSSSSCGTSGLPVSAQTALAEQQPKSMKSPASPEPGFCA
  TLCPMVEIPPKDIMAELESEDILIPEESVIQEEIAEEVETSICECQDENHKTIPEFSEEA
  ESLTNSHEEPQIAPPEDNLESCVMMNDVLETLPHIEVKIEGKSESPQEEMTVVIDQLEVC
  DSLIPSTSSMTHVSDTEHKESETAVETSTPKIKTGSSSLEGQFPNEGIAIDMELQSDPEE
  QLSENACISETSFSSESPEGACTSLPSPGGETQSTSEESCTPASLETTFCSEVSSTENTD
  KYNQRNSTDENFHASLMSEISPISTSPEISEASLMSNLPLTSEASPVSNLPLTSETSPMS
  DLPLTSETSSVSSMLLTSETTFVSSLPLPSETSPISNSSINERMAHQQRKSPSVSEEPLS
  PQKDESSATAKPLGENLTSQQKNLSNTPEPIIMSSSSIAPEAFPSEDLHNKTLSQQTCKS
  HVDTEKPYPASIPELASTEMIKVKNHSVLQRTEKKVLPSPLELSVFSEGTDNKGNELPSA
  KLQDKQYISSVDKAPFSEGSRNKTHKQGSTQSRLETSHTSKSSEPSKSPDGIRNESRDSE
  ISKRKTAEQHSFGICKEKRARIEDDQSTRNISSSSPPEKEQPPREEPRVPPLKIQLSKIG
  PPFIIKSQPVSKPESRASTSTSVSGGRNTGARTLADIKARAQQARAQREAAAAAAVAAAA
  SIVSGAMGSPGEGGKTRTLAHIKEQTKAKLFAKHQARAHLFQTSKETRLPPPLSSKEGPP
  NLEVSSTPETKMEGSTGVIIVNPNCRSPSNKSAHLRETTTVLQQSLNPSKLPETATDLSV
  HSSDENIPVSHLSEKIVSSTSSENSSVPMLFNKNSVPVSVCSTAISGAIKEHPFVSSVDK
  SSVLMSVDSANTTISACNISMLKTIQGTDTPCIAIIPKCIESTPISATTEGSSISSSMDD
  KQLLISSSSASNLVSTQYTSVPTPSIGNNLPNLSTSSVLIPPMGINNRFPSEKIAIPGSE
  EQATVSMGTTVRAALSCSDSVAVTDSLVAHPTVAMFTGNMLTINSYDSPPKLSAESLDKN
  SGPRNRADNSGKPQQPPGGFAPAAINRSIPCKVIVDHSTTLTSSLSLTVSVESSEASLDL
  QGRPVRTEASVQPVACPQVSVISRPEPVANEGIDHSSTFIAASAAKQDSKTLPATCTSLR
  ELPLVPDKLNEPTAPSHNFAEQARGPAPFKSEADTTCSNQYNPSNRICWNDDGMRSTGQP
  LVTHSGSSKQKEYLEQSCPKAIKTEHANYLNVSELHPRNLVTNVALPVKSELHEADKGFR
  MDTEDFPGPELPPPAAEGASSVQQTQNMKASTSSPMEEAISLATDALKRVPGAGSSGCRL
  SSVEANNPLVTQLLQGNLPLEKVLPQPRLGAKLEINRLPLPLQTTSVGKTAPERNVEIPP
  SSPNPDGKGYLAGTLAPLQMRKRENHPKKRVARTVGEHTQVKCEPGKLLVEPDVKGVPCV
  ISSGISQLGHSQPFKQEWLNKHSMQNRIVHSPEVKQQKRLLPSCSFQQNLFHVDKNGGFH
  TDAGTSHRQQFYQMPVAARGPIPTAALLQASSKTPVGCNAFAFNRHLEQKGLGEVSLSSA
  PHQLRLANMLSPNMPMKEGDEVGGTAHTMPNKALVHPPPPPPPPPPPPLALPPPPPPPPP
  LPPPLPNAEVPSDQKQPPVTMETTKRLSWPQSTGICSNIKSEPLSFEEGLSSSCELGMKQ
  VSYDQNEMKEQLKAFALKSADFSSYLLSEPQKPFTQLAAQKMQVQQQQQLCGNYPTIHFG
  STSFKRAASAIEKSIGILGSGSNPATGLSGQNAQMPVQNFADSSNADELELKCSCRLKAM
  IVCKGCGAFCHDDCIGPSKLCVACLVVR

• Sequence length: 2248

Pathways

KEGG:

Polycomb repressive complex

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Angelman syndrome	Angelman Syndrome	rs111033595, rs111033596, rs111033597, rs2147483647, rs28934904, rs267608434, rs28935468, rs61748396, rs398124440, rs587780565, rs587780566, rs587780567, rs587780568, rs587780569, rs587780570, rs587780571, rs587780572, rs587780573, rs587780574, rs587780575, rs587780576, rs587780577, rs587780578, rs587780579, rs587780580, rs76794400, rs587780581, rs587780582, rs587780583, rs587780584, rs587780585, rs63749748, rs61754453, rs267608546, rs587781190, rs587781191, rs587781192, rs587781193, rs587781194, rs587781195, rs587781196, rs587781197, rs587781198, rs587781199, rs587781200, rs587781201, rs587781202, rs587781203, rs587781204, rs587781205, rs587781206, rs587781207, rs587781208, rs587781209, rs587781210, rs587781211, rs587781212, rs587781213, rs587781214, rs587781215, rs587781216, rs587781217, rs587781218, rs587781219, rs587781220, rs587781221, rs587781222, rs587781223, rs587781224, rs587781225, rs1555379745, rs587781226, rs587781227, rs1555379684, rs587781228, rs587781229, rs587781231, rs587781232, rs587781233, rs587781234, rs587781235, rs587781236, rs587781237, rs587781238, rs587781239, rs587781240, rs587781241, rs587781242, rs587781243, rs587781244, rs587783097, rs587784526, rs587784520, rs587782919, rs587784519, rs587784518, rs587784516, rs587784515, rs587784514, rs587784513, rs587784512, rs587784509, rs587784508, rs587784534, rs587784533, rs587784532, rs587784531, rs587784530, rs587784529, rs1557135251, rs863225070, rs863225068, rs756564767, rs797046088, rs1555379800, rs587781230, rs797046087, rs797046086, rs797046085, rs797046084, rs863224940, rs864309508, rs864309506, rs886039516, rs886041603, rs1057519062, rs1064792950, rs1064795001, rs1064795012, rs1064793307, rs1555399937, rs1490279918, rs1555380809, rs1555391286, rs1555400239, rs1555393242, rs1566954070, rs1566959617, rs1566961418, rs1595375255, rs1595375630, rs1595804239, rs1207660411, rs1595362860, rs1595572384, rs1595591164, rs997044541, rs2074508602, rs2080231132, rs2080238010, rs1891450501
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
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
Epilepsy	Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	29942082
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060	27075689
Mental retardation	Severe intellectual disability, Moderate intellectual disability, 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
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	27901041, 23383720, 26647312, 28955728, 28100473, 27075689, 24044690, 21706002, 25363760
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889, 29942082
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma		27075689	ClinVar
Mental depression	Mental impairment			ClinVar
Neuroticism	Neuroticism			GWAS
Diabetes	Diabetes			GWAS
Insomnia	Insomnia			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Mental Depression	Mental Depression			GWAS
Restless Legs Syndrome	Restless Legs Syndrome			GWAS
Heart Failure	Heart Failure			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	34646089
Adenocarcinoma of Lung	Associate	31558162
Alcohol Related Disorders	Associate	36177608
Arthrogryposis	Associate	33820833
Autistic Disorder	Associate	35172777
Bainbridge Ropers syndrome	Associate	26647312, 27693232, 27901041, 29305346, 31638014, 32517662, 33751773, 34086428, 34436830, 34886823, 35172777, 35276034, 36177608
Bohring syndrome	Associate	27901041, 29305346
Bone Diseases Developmental	Associate	33820833
Cleft Palate	Associate	27901041
Congenital Abnormalities	Associate	27693232
Craniofacial Abnormalities	Associate	24044690
Developmental Disabilities	Associate	24044690, 29305346, 34086428, 34886823, 35172777
Failure to Thrive	Associate	26647312
Feeding and Eating Disorders	Associate	26647312, 27901041, 35172777
Growth Disorders	Associate	24044690
Hypersensitivity Delayed	Associate	27901041, 34436830, 36177608
Intellectual Disability	Associate	26647312, 27901041, 36177608
Language Development Disorders	Associate	26647312
Leukemia Myeloid Acute	Associate	27462774
Melanoma	Associate	25393105
Mental Disorders	Associate	36177608
Mental Retardation X Linked Syndromic Christianson Type	Associate	34653234
Microcephaly	Associate	24044690
Muscle Hypotonia	Associate	26647312, 27901041, 36177608
Neoplasms	Associate	25393105
Obsessive Compulsive Disorder	Associate	35020433
Parathyroid Neoplasms	Associate	36611251
Postural Orthostatic Tachycardia Syndrome	Associate	35172777
Prostatic Neoplasms	Stimulate	34646089
Prostatic Neoplasms Castration Resistant	Associate	32091413
Seizures	Associate	35172777
Sexual Dysfunction Physiological	Associate	36177608
Small Cell Lung Carcinoma	Associate	32669118, 35194152
Speech Disorders	Associate	27901041
Syndrome	Associate	32517662