SMC3 (structural maintenance of chromosomes 3)

Gene

• Entrez ID: 9126
• Gene name: Structural maintenance of chromosomes 3
• Gene symbol: SMC3
• Synonyms (NCBI Gene): BAM, BMH, CDLS3, CSPG6, HCAP, SMC3L1
• Disease Acronyms (UniProt): CDLS3
• Chromosome: 10
• Chromosome location: 10q25.2
• Summary: This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587784425	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587784427	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587784429	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs727503775	TACAGGAACTT>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs748876063	C>G,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs776056911	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs779885552	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs797044861	A>C	Pathogenic	Coding sequence variant, missense variant
rs797045070	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs797045996	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs797045997	->GAA	Likely-pathogenic	Inframe insertion, coding sequence variant
rs863223279	AGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs863225258	T>C	Pathogenic	Coding sequence variant, missense variant
rs863225259	ACT>-	Pathogenic	Coding sequence variant, inframe deletion
rs863225260	G>A	Pathogenic	Coding sequence variant, missense variant
rs863225261	G>C	Pathogenic	Coding sequence variant, missense variant
rs866273473	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs869312672	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886041239	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs901512521	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521663	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793598	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796790	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691432	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1564792181	GCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1564794233	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1564796294	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1590556378	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1590556722	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1590567950	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1590571077	AAA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1590572104	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019626	hsa-miR-340-5p	Sequencing	20371350
MIRT026077	hsa-miR-196a-5p	Sequencing	20371350
MIRT049364	hsa-miR-92a-3p	CLASH	23622248
MIRT041357	hsa-miR-193b-3p	CLASH	23622248
MIRT040180	hsa-miR-615-3p	CLASH	23622248
MIRT448453	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT055334	hsa-miR-3163	PAR-CLIP	22100165
MIRT448452	hsa-miR-4762-5p	PAR-CLIP	22100165
MIRT448451	hsa-miR-4427	PAR-CLIP	22100165
MIRT448450	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT448449	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT448448	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT448447	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT176641	hsa-miR-382-5p	PAR-CLIP	22100165
MIRT448461	hsa-miR-7844-5p	PAR-CLIP	22100165
MIRT448460	hsa-miR-10a-3p	PAR-CLIP	22100165
MIRT448459	hsa-miR-4700-3p	PAR-CLIP	22100165
MIRT448458	hsa-miR-302a-5p	PAR-CLIP	22100165
MIRT176645	hsa-miR-3613-5p	PAR-CLIP	22100165
MIRT448457	hsa-miR-520d-5p	PAR-CLIP	22100165
MIRT448456	hsa-miR-524-5p	PAR-CLIP	22100165
MIRT448455	hsa-let-7c-3p	PAR-CLIP	22100165
MIRT176639	hsa-let-7a-2-3p	PAR-CLIP	22100165
MIRT176640	hsa-let-7g-3p	PAR-CLIP	22100165
MIRT448454	hsa-miR-493-5p	PAR-CLIP	22100165
MIRT448453	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT055334	hsa-miR-3163	PAR-CLIP	22100165
MIRT448452	hsa-miR-4762-5p	PAR-CLIP	22100165
MIRT448451	hsa-miR-4427	PAR-CLIP	22100165
MIRT448450	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT448449	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT448448	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT448447	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT735352	hsa-miR-4720-3p	Luciferase reporter assay, Western blotting, In situ hybridization	32314520
MIRT448453	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT055334	hsa-miR-3163	PAR-CLIP	22100165
MIRT448452	hsa-miR-4762-5p	PAR-CLIP	22100165
MIRT448451	hsa-miR-4427	PAR-CLIP	22100165
MIRT448450	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT448449	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT448448	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT448447	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT176641	hsa-miR-382-5p	PAR-CLIP	22100165
MIRT448461	hsa-miR-7844-5p	PAR-CLIP	22100165
MIRT448460	hsa-miR-10a-3p	PAR-CLIP	22100165
MIRT448459	hsa-miR-4700-3p	PAR-CLIP	22100165
MIRT448458	hsa-miR-302a-5p	PAR-CLIP	22100165
MIRT176645	hsa-miR-3613-5p	PAR-CLIP	22100165
MIRT448457	hsa-miR-520d-5p	PAR-CLIP	22100165
MIRT448456	hsa-miR-524-5p	PAR-CLIP	22100165
MIRT448455	hsa-let-7c-3p	PAR-CLIP	22100165
MIRT176639	hsa-let-7a-2-3p	PAR-CLIP	22100165
MIRT176640	hsa-let-7g-3p	PAR-CLIP	22100165
MIRT448454	hsa-miR-493-5p	PAR-CLIP	22100165
MIRT448453	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT055334	hsa-miR-3163	PAR-CLIP	22100165
MIRT448452	hsa-miR-4762-5p	PAR-CLIP	22100165
MIRT448451	hsa-miR-4427	PAR-CLIP	22100165
MIRT448450	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT448449	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT448448	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT448447	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT1372399	hsa-miR-1343	CLIP-seq
MIRT1372400	hsa-miR-4464	CLIP-seq
MIRT1372401	hsa-miR-4748	CLIP-seq
MIRT1372402	hsa-miR-513a-3p	CLIP-seq
MIRT1372403	hsa-miR-582-5p	CLIP-seq
MIRT2110605	hsa-miR-1279	CLIP-seq
MIRT2110606	hsa-miR-150	CLIP-seq
MIRT2110607	hsa-miR-382	CLIP-seq
MIRT2110608	hsa-miR-4712-3p	CLIP-seq
MIRT2110609	hsa-miR-4713-5p	CLIP-seq
MIRT2110610	hsa-miR-532-3p	CLIP-seq
MIRT2110611	hsa-miR-580	CLIP-seq
MIRT2110605	hsa-miR-1279	CLIP-seq
MIRT2110606	hsa-miR-150	CLIP-seq
MIRT2334010	hsa-miR-196a	CLIP-seq
MIRT2334011	hsa-miR-196b	CLIP-seq
MIRT2334012	hsa-miR-3927	CLIP-seq
MIRT2110609	hsa-miR-4713-5p	CLIP-seq
MIRT2110610	hsa-miR-532-3p	CLIP-seq
MIRT2628209	hsa-miR-1264	CLIP-seq
MIRT2628210	hsa-miR-1272	CLIP-seq
MIRT2628211	hsa-miR-1322	CLIP-seq
MIRT1372399	hsa-miR-1343	CLIP-seq
MIRT2628212	hsa-miR-3187-3p	CLIP-seq
MIRT2628213	hsa-miR-323-3p	CLIP-seq
MIRT2628214	hsa-miR-340	CLIP-seq
MIRT2628215	hsa-miR-3926	CLIP-seq
MIRT2628216	hsa-miR-4435	CLIP-seq
MIRT1372400	hsa-miR-4464	CLIP-seq
MIRT2628217	hsa-miR-4701-5p	CLIP-seq
MIRT2110608	hsa-miR-4712-3p	CLIP-seq
MIRT1372401	hsa-miR-4748	CLIP-seq
MIRT2628218	hsa-miR-4759	CLIP-seq
MIRT2628219	hsa-miR-4766-5p	CLIP-seq
MIRT2628220	hsa-miR-4797-5p	CLIP-seq
MIRT1372402	hsa-miR-513a-3p	CLIP-seq
MIRT2628221	hsa-miR-548s	CLIP-seq
MIRT2628222	hsa-miR-570	CLIP-seq
MIRT1372403	hsa-miR-582-5p	CLIP-seq
MIRT2628223	hsa-miR-588	CLIP-seq
MIRT2628210	hsa-miR-1272	CLIP-seq
MIRT2628211	hsa-miR-1322	CLIP-seq
MIRT2628213	hsa-miR-323-3p	CLIP-seq
MIRT2628214	hsa-miR-340	CLIP-seq
MIRT2628218	hsa-miR-4759	CLIP-seq
MIRT2628220	hsa-miR-4797-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	TAS	9506951
GO:0000775	Component	Chromosome, centromeric region	TAS
GO:0000785	Component	Chromatin	IDA	16682347, 19907496
GO:0000800	Component	Lateral element	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003777	Function	Microtubule motor activity	NAS	11590136
GO:0005515	Function	Protein binding	IPI	9506951, 9789013, 11590136, 11983169, 15656913, 15737063, 15837422, 15855230, 16682347, 16802858, 17105772, 17112726, 17113138, 17349791, 17962804, 18235444, 18832153, 19629043, 19907496, 20818333, 22293751, 22540012, 22628566, 22885700, 23242214, 24299456, 24981860, 26496610, 28514
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006275	Process	Regulation of DNA replication	IMP	19907496
GO:0006281	Process	DNA repair	IEA
GO:0007062	Process	Sister chromatid cohesion	IMP	15917200
GO:0007062	Process	Sister chromatid cohesion	NAS	11590136
GO:0008278	Component	Cohesin complex	IDA	9789013, 11590136, 22628566
GO:0008278	Component	Cohesin complex	NAS	9506951
GO:0016363	Component	Nuclear matrix	IDA	11590136
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0030893	Component	Meiotic cohesin complex	IDA	21242291
GO:0034991	Component	Nuclear meiotic cohesin complex	IEA
GO:0036033	Function	Mediator complex binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	11590136
GO:0048487	Function	Beta-tubulin binding	IDA	11590136
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IDA
GO:0070840	Function	Dynein complex binding	IDA	11590136
GO:0090307	Process	Mitotic spindle assembly	IMP	11590136
GO:0097431	Component	Mitotic spindle pole	IDA	11590136

Other IDs

• MIM: 606062
• HGNC: 2468
• e!Ensembl: ENSG00000108055

Protein

• UniProt ID: Q9UQE7
• Protein name: Structural maintenance of chromosomes protein 3 (SMC protein 3) (SMC-3) (Basement membrane-associated chondroitin proteoglycan) (Bamacan) (Chondroitin sulfate proteoglycan 6) (Chromosome-associated polypeptide) (hCAP)
• Protein function: Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissoc
• PDB: 6WG3, 6WG4, 6WG6, 6WGE, 7W1M, 8P0A, 8PQ5, 8ROH, 8ROI, 8ROJ, 8ROK, 8ROL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02463	SMC_N	2 → 1197	RecF/RecN/SMC N terminal domain	Domain
  PF06470	SMC_hinge	529 → 643	SMC proteins Flexible Hinge Domain	Domain

• Sequence:

  MYIKQVIIQGFRSYRDQTIVDPFSSKHNVIVGRNGSGKSNFFYAIQFVLSDEFSHLRPEQ
  RLALLHEGTGPRVISAFVEIIFDNSDNRLPIDKEEVSLRRVIGAKKDQYFLDKKMVTKND
  VMNLLESAGFSRSNPYYIVKQGKINQMATAPDSQRLKLLREVAGTRVYDERKEESISLMK
  ETEGKREKINELLKYIEERLHTLEEEKEELAQYQKWDKMRRALEYTIYNQELNETRAKLD
  ELSAKRETSGEKSRQLRDAQQDARDKMEDIERQVRELKTKISAMKEEKEQLSAERQEQIK
  QRTKLELKAKDLQDELAGNSEQRKRLLKERQKLLEKIEEKQKELAETEPKFNSVKEKEER
  GIARLAQATQERTDLYAKQGRGSQFTSKEERDKWIKKELKSLDQAINDKKRQIAAIHKDL
  EDTEANKEKNLEQYNKLDQDLNEVKARVEELDRKYYEVKNKKDELQSERNYLWREENAEQ
  QALAAKREDLEKKQQLLRAATGKAILNGIDSINKVLDHFRRKGINQHVQNGYHGIVMNNF
  ECEPAFYTCVEVTAGNRLFYHIVDSDEVSTKILMEFNKMNLPGEVTFLPLNKLDVRDTAY
  PETNDAIPMISKLRYNPRFDKAFKHVFGKTLICRSMEVSTQLARAFTMDCITLEGDQVSH
  RGALTGGYYDTRKSRLELQKDVRKAEEELGELEAKLNENLRRNIERINNEIDQLMNQMQQ
  IETQQRKFKASRDSILSEMKMLKEKRQQSEKTFMPKQRSLQSLEASLHAMESTRESLKAE
  LGTDLLSQLSLEDQKRVDALNDEIRQLQQENRQLLNERIKLEGIITRVETYLNENLRKRL
  DQVEQELNELRETEGGTVLTATTSELEAINKRVKDTMARSEDLDNSIDKTEAGIKELQKS
  MERWKNMEKEHMDAINHDTKELEKMTNRQGMLLKKKEECMKKIRELGSLPQEAFEKYQTL
  SLKQLFRKLEQCNTELKKYSHVNKKALDQFVNFSEQKEKLIKRQEELDRGYKSIMELMNV
  LELRKYEAIQLTFKQVSKNFSEVFQKLVPGGKATLVMKKGDVEGSQSQDEGEGSGESERG
  SGSQSSVPSVDQFTGVGIRVSFTGKQGEMREMQQLSGGQKSLVALALIFAIQKCDPAPFY
  LFDEIDQALDAQHRKAVSDMIMELAVHAQFITTTFRPELLESADKFYGVKFRNKVSHIDV
  ITAEMAKDFVEDDTTHG

• Sequence length: 1217

Pathways

KEGG:

Cell cycle
Oocyte meiosis

Reactome:

Separation of Sister Chromatids
Establishment of Sister Chromatid Cohesion
Cohesin Loading onto Chromatin
Resolution of Sister Chromatid Cohesion
SUMOylation of DNA damage response and repair proteins
Estrogen-dependent gene expression

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs775394591
Congenital muscular hypertrophy-cerebral syndrome	Congenital muscular hypertrophy-cerebral syndrome	rs1602407457, rs122454122, rs122454123, rs387906702, rs587784419, rs587784418, rs587784416, rs587784415, rs587784412, rs587784410, rs587784409, rs587784408, rs587784407, rs587784406, rs587784404, rs587784403, rs587784423, rs587784421, rs587784420, rs727503773, rs863225459, rs863225458, rs797044896, rs797045069, rs797045993, rs797045992, rs886044819, rs1057518670, rs1057519499, rs1057519398, rs1556889269, rs1556890135, rs1556886034, rs1556889236, rs1569356550, rs1569356555, rs1569358628, rs1569359048, rs1569359535, rs1569359540, rs1556890815, rs1556886127, rs1556886124, rs1556892359, rs1569351341, rs1569351534, rs1569351907, rs1569356968, rs1602404847, rs1602411858, rs1602409271, rs1602398950, rs1602405588, rs1602410098, rs868985177, rs1602413582, rs1556885810, rs1602410239, rs1556887759, rs2075587887, rs2075680329, rs2075685944, rs2075701790, rs2075725792, rs2075725850
Cornelia de lange syndrome	Cornelia De Lange Syndrome, Cornelia de Lange Syndrome 3, Cornelia de Lange Syndrome 1, Cornelia de Lange syndrome	rs121918264, rs121918265, rs1554011042, rs1561222491, rs1554016981, rs121918266, rs121918267, rs121918268, rs1561231553, rs121918269, rs724159980, rs863223279, rs387907212, rs398122888, rs397515415, rs397515416, rs397515417, rs397515418, rs587779380, rs398124465, rs398124466, rs80358362, rs398124471, rs398124474, rs80358367, rs80358382, rs80358364, rs80358374, rs80358386, rs80358369, rs80358372, rs80358366, rs80358373, rs80358360, rs80358363, rs80358361, rs80358376, rs80358384, rs80358370, rs80358368, rs80358371, rs587783937, rs587784009, rs587784010, rs587784012, rs587784060, rs587783886, rs587783893, rs587783895, rs587783917, rs587783922, rs587783927, rs587783928, rs587783951, rs587783988, rs587783993, rs587784048, rs587784049, rs587784059, rs587784062, rs587784063, rs587784065, rs587783877, rs587783878, rs587783879, rs587783880, rs587783882, rs587783883, rs587783884, rs587783887, rs587783888, rs587783889, rs587783891, rs587783892, rs587783894, rs587783896, rs587783897, rs587783899, rs587783901, rs587783902, rs587783905, rs587783906, rs587783907, rs587783909, rs587783910, rs587783911, rs587783912, rs587783914, rs587783918, rs80358356, rs80358375, rs587783919, rs587783921, rs587783923, rs587783925, rs587783926, rs587783930, rs587783931, rs587783932, rs587783933, rs587783934, rs587783936, rs587783938, rs587783939, rs587783940, rs587783941, rs587783942, rs587783944, rs587783945, rs587783947, rs587783950, rs587783952, rs587783953, rs587783954, rs587783955, rs587783957, rs77632238, rs587783959, rs587783960, rs587783961, rs587783966, rs587783967, rs587783968, rs587783969, rs587783971, rs587783972, rs587783973, rs587783974, rs587783975, rs587783977, rs62654864, rs587783979, rs587783980, rs587783982, rs587783984, rs587783985, rs587783986, rs587783987, rs587783994, rs587783997, rs587783998, rs587784000, rs587784002, rs587784003, rs587784004, rs587784005, rs587784007, rs587784008, rs587784013, rs587784015, rs587784016, rs587784017, rs587784019, rs587784020, rs587784021, rs587784022, rs587784024, rs587784025, rs587784026, rs587784027, rs587784029, rs587784030, rs587784032, rs587784033, rs587784034, rs587784035, rs587784036, rs587784037, rs587784038, rs587784039, rs587784040, rs587784043, rs587784047, rs587784050, rs587784052, rs587784053, rs587784055, rs587784056, rs587784429, rs587784425, rs587784427, rs587783663, rs727503768, rs727503770, rs727503767, rs727503766, rs727503769, rs730880331, rs727503772, rs727503771, rs727503778, rs727503777, rs797044861, rs797045070, rs797045749, rs797045753, rs797045755, rs797045763, rs797045745, rs797045746, rs797045747, rs797045748, rs797045750, rs797045751, rs797045752, rs797045754, rs797045756, rs797045757, rs797045758, rs797045760, rs797045761, rs797045762, rs797045764, rs797045766, rs797045767, rs797045768, rs797045769, rs797045770, rs797045771, rs797045772, rs797045773, rs797045775, rs797045776, rs797045778, rs797045779, rs797045780, rs797045783, rs797045784, rs797045785, rs797045786, rs797045787, rs797045788, rs797045789, rs797045909, rs797045908, rs797045907, rs797045997, rs797045613, rs797045612, rs797045611, rs797045610, rs863224910, rs863224877, rs863225258, rs863225259, rs863225260, rs863225261, rs869312660, rs869312672, rs886041810, rs886041239, rs886041936, rs886041838, rs886042231, rs1057516034, rs1057516037, rs1057518944, rs1057518727, rs1057520375, rs1555948969, rs1554017345, rs1554017661, rs1554019663, rs1554020997, rs1554031864, rs1554032085, rs1554612096, rs776056911, rs146015223, rs1554032789, rs1554014382, rs1554011046, rs1554019698, rs1554030233, rs1554035311, rs1554017441, rs1554025675, rs1554030285, rs1554019667, rs1554015145, rs1554023967, rs1555949010, rs1554015303, rs1561083229, rs1561164598, rs1561207924, rs1563687901, rs1563689416, rs1564792181, rs1564794233, rs1569316085, rs1569318004, rs1556009247, rs1554025780, rs1554019712, rs1554032954, rs1554017175, rs1554035266, rs1563686762, rs1556165162, rs1554025252, rs1554025796, rs1554020579, rs1554612093, rs1569317995, rs1561102868, rs1561145912, rs1561222738, rs1561169166, rs1561214997, rs1564789897, rs1563688680, rs1590556722, rs866740147, rs1580396071, rs1580425629, rs1580436698, rs1580451470, rs751902505, rs1579570362, rs1590563617, rs1580323183, rs1580373035, rs1602975455, rs1580396767, rs1602491207, rs748876063, rs1590572104, rs1602975122, rs1580323151, rs1579557913, rs1586275911, rs1590556378, rs1602975601, rs1586268625, rs1586276006, rs748575266, rs1580394197, rs1590571077, rs1741183871, rs1748964402, rs1749739420, rs1754396332, rs1754603855, rs1755082448, rs1755224830, rs1812515682, rs1740652803, rs2051897517, rs1861074646, rs1812331711, rs1352385210, rs1812376090, rs2047965357, rs1740845459	26633545, 25125236, 30158690, 25655089, 25529582
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	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
Mental retardation	Severe intellectual disability, Mild Mental Retardation, 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
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Renal insufficiency	Renal Insufficiency	rs1596536873
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Cornelia De Lange Syndrome	Cornelia de Lange syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Aneuploidy	Associate	23455720
Ataxia	Associate	25655089
Bone Diseases	Associate	33397451
Carcinoma Hepatocellular	Stimulate	36281130
Carcinoma Hepatocellular	Associate	37204480
De Lange Syndrome	Associate	17273969, 18996922, 19052029, 19701948, 20358602, 20448023, 22241092, 22857006, 22885700, 23106691, 24756084, 24918291, 25125236, 25574841, 25652421, 25655089, 26581180, 30515000, 30606125, 30614194, 32532882, 34989322, 39682772
Depression Postpartum	Associate	25655089
Dermatitis Atopic	Associate	33289509
Down Syndrome	Associate	35587378, 35838049
Fractures Bone	Associate	33397451
Growth Disorders	Associate	25655089
Heart Defects Congenital	Associate	22965847, 25655089
Intellectual Disability	Associate	17273969
Leukemia	Associate	23733339, 25095896
Leukemia Megakaryoblastic Acute	Associate	35838049
Leukemia Myeloid Acute	Associate	24335498, 36727396
Mental Retardation X Linked Nonsyndromic	Associate	17273969
Myeloproliferative Disorders	Associate	35838049
Neoplasms	Associate	25006131, 33460400, 36281130
Orofacial Cleft 1	Associate	37350193
Polycystic Ovary Syndrome	Associate	26308735
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237025, 27022003, 27470916
Purpura Thrombocytopenic Idiopathic	Associate	33222560
Roberts Syndrome	Associate	34989322
Sarcoma	Associate	33460400
Urinary Bladder Neoplasms	Associate	37542643