RHOBTB2 (Rho related BTB domain containing 2)

Gene

• Entrez ID: 23221
• Gene name: Rho related BTB domain containing 2
• Gene symbol: RHOBTB2
• Synonyms: DBC2, DEE64, EIEE64, p83
• Chromosome: 8
• Chromosome location: 8p21.3
• Summary: The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of som

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554504656	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554504663	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1554504678	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554504681	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554504684	G>A	Pathogenic	Coding sequence variant, missense variant
rs1563292586	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044286	hsa-miR-106b-5p	CLASH	23622248
MIRT039445	hsa-miR-421	CLASH	23622248
MIRT1305437	hsa-miR-1285	CLIP-seq
MIRT1305438	hsa-miR-1293	CLIP-seq
MIRT1305439	hsa-miR-1470	CLIP-seq
MIRT1305440	hsa-miR-1912	CLIP-seq
MIRT1305441	hsa-miR-2861	CLIP-seq
MIRT1305442	hsa-miR-3163	CLIP-seq
MIRT1305443	hsa-miR-3187-5p	CLIP-seq
MIRT1305444	hsa-miR-3189-5p	CLIP-seq
MIRT1305445	hsa-miR-3192	CLIP-seq
MIRT1305446	hsa-miR-3200-5p	CLIP-seq
MIRT1305447	hsa-miR-3614-5p	CLIP-seq
MIRT1305448	hsa-miR-3662	CLIP-seq
MIRT1305449	hsa-miR-3667-3p	CLIP-seq
MIRT1305450	hsa-miR-378g	CLIP-seq
MIRT1305451	hsa-miR-4268	CLIP-seq
MIRT1305452	hsa-miR-4300	CLIP-seq
MIRT1305453	hsa-miR-4314	CLIP-seq
MIRT1305454	hsa-miR-432	CLIP-seq
MIRT1305455	hsa-miR-4469	CLIP-seq
MIRT1305456	hsa-miR-4483	CLIP-seq
MIRT1305457	hsa-miR-4486	CLIP-seq
MIRT1305458	hsa-miR-4488	CLIP-seq
MIRT1305459	hsa-miR-4492	CLIP-seq
MIRT1305460	hsa-miR-4498	CLIP-seq
MIRT1305461	hsa-miR-4505	CLIP-seq
MIRT1305462	hsa-miR-4633-3p	CLIP-seq
MIRT1305463	hsa-miR-4667-3p	CLIP-seq
MIRT1305464	hsa-miR-4682	CLIP-seq
MIRT1305465	hsa-miR-4685-5p	CLIP-seq
MIRT1305466	hsa-miR-4691-5p	CLIP-seq
MIRT1305467	hsa-miR-4697-5p	CLIP-seq
MIRT1305468	hsa-miR-4755-3p	CLIP-seq
MIRT1305469	hsa-miR-4756-3p	CLIP-seq
MIRT1305470	hsa-miR-4758-3p	CLIP-seq
MIRT1305471	hsa-miR-4785	CLIP-seq
MIRT1305472	hsa-miR-574-5p	CLIP-seq
MIRT1305473	hsa-miR-577	CLIP-seq
MIRT1305474	hsa-miR-612	CLIP-seq
MIRT1305475	hsa-miR-762	CLIP-seq
MIRT1305476	hsa-miR-890	CLIP-seq
MIRT1305477	hsa-miR-920	CLIP-seq
MIRT1305478	hsa-miR-1193	CLIP-seq
MIRT1305479	hsa-miR-1207-3p	CLIP-seq
MIRT1305480	hsa-miR-1207-5p	CLIP-seq
MIRT1305481	hsa-miR-15a	CLIP-seq
MIRT1305482	hsa-miR-15b	CLIP-seq
MIRT1305483	hsa-miR-16	CLIP-seq
MIRT1305484	hsa-miR-18a	CLIP-seq
MIRT1305485	hsa-miR-18b	CLIP-seq
MIRT1305486	hsa-miR-195	CLIP-seq
MIRT1305487	hsa-miR-214	CLIP-seq
MIRT1305488	hsa-miR-2467-3p	CLIP-seq
MIRT1305489	hsa-miR-3144-5p	CLIP-seq
MIRT1305490	hsa-miR-3165	CLIP-seq
MIRT1305491	hsa-miR-3191	CLIP-seq
MIRT1305492	hsa-miR-326	CLIP-seq
MIRT1305493	hsa-miR-330-5p	CLIP-seq
MIRT1305494	hsa-miR-342-5p	CLIP-seq
MIRT1305495	hsa-miR-3619-5p	CLIP-seq
MIRT1305496	hsa-miR-3691-5p	CLIP-seq
MIRT1305497	hsa-miR-3925-3p	CLIP-seq
MIRT1305498	hsa-miR-424	CLIP-seq
MIRT1305499	hsa-miR-4493	CLIP-seq
MIRT1305500	hsa-miR-4651	CLIP-seq
MIRT1305501	hsa-miR-4652-5p	CLIP-seq
MIRT1305502	hsa-miR-4664-5p	CLIP-seq
MIRT1305503	hsa-miR-4667-5p	CLIP-seq
MIRT1305504	hsa-miR-4700-5p	CLIP-seq
MIRT1305505	hsa-miR-4735-3p	CLIP-seq
MIRT1305506	hsa-miR-4736	CLIP-seq
MIRT1305507	hsa-miR-4763-3p	CLIP-seq
MIRT1305508	hsa-miR-497	CLIP-seq
MIRT1305509	hsa-miR-608	CLIP-seq
MIRT1305510	hsa-miR-637	CLIP-seq
MIRT1305511	hsa-miR-761	CLIP-seq
MIRT1305512	hsa-miR-766	CLIP-seq
MIRT2090372	hsa-miR-103a	CLIP-seq
MIRT2090373	hsa-miR-107	CLIP-seq
MIRT2090374	hsa-miR-1256	CLIP-seq
MIRT2090375	hsa-miR-125a-5p	CLIP-seq
MIRT2090376	hsa-miR-125b	CLIP-seq
MIRT2090377	hsa-miR-136	CLIP-seq
MIRT1305481	hsa-miR-15a	CLIP-seq
MIRT1305482	hsa-miR-15b	CLIP-seq
MIRT1305483	hsa-miR-16	CLIP-seq
MIRT1305486	hsa-miR-195	CLIP-seq
MIRT2090378	hsa-miR-2278	CLIP-seq
MIRT2090379	hsa-miR-3183	CLIP-seq
MIRT1305492	hsa-miR-326	CLIP-seq
MIRT1305493	hsa-miR-330-5p	CLIP-seq
MIRT1305498	hsa-miR-424	CLIP-seq
MIRT1305451	hsa-miR-4268	CLIP-seq
MIRT2090380	hsa-miR-4319	CLIP-seq
MIRT2090381	hsa-miR-4650-5p	CLIP-seq
MIRT2090382	hsa-miR-4723-3p	CLIP-seq
MIRT2090383	hsa-miR-4732-3p	CLIP-seq
MIRT1305508	hsa-miR-497	CLIP-seq
MIRT2090384	hsa-miR-670	CLIP-seq
MIRT1305451	hsa-miR-4268	CLIP-seq
MIRT2315256	hsa-miR-1200	CLIP-seq
MIRT1305481	hsa-miR-15a	CLIP-seq
MIRT1305482	hsa-miR-15b	CLIP-seq
MIRT1305483	hsa-miR-16	CLIP-seq
MIRT2315257	hsa-miR-1827	CLIP-seq
MIRT2315258	hsa-miR-1910	CLIP-seq
MIRT1305486	hsa-miR-195	CLIP-seq
MIRT2315259	hsa-miR-2355-5p	CLIP-seq
MIRT1305441	hsa-miR-2861	CLIP-seq
MIRT2315260	hsa-miR-3074-5p	CLIP-seq
MIRT2315261	hsa-miR-3126-5p	CLIP-seq
MIRT2315262	hsa-miR-3140-5p	CLIP-seq
MIRT2315263	hsa-miR-3184	CLIP-seq
MIRT2315264	hsa-miR-3612	CLIP-seq
MIRT2315265	hsa-miR-3690	CLIP-seq
MIRT2315266	hsa-miR-423-5p	CLIP-seq
MIRT1305498	hsa-miR-424	CLIP-seq
MIRT2315267	hsa-miR-4254	CLIP-seq
MIRT1305508	hsa-miR-497	CLIP-seq
MIRT2315268	hsa-miR-650	CLIP-seq
MIRT2315269	hsa-miR-661	CLIP-seq
MIRT2458173	hsa-miR-3934	CLIP-seq
MIRT2458174	hsa-miR-4313	CLIP-seq
MIRT2458175	hsa-miR-4726-3p	CLIP-seq
MIRT2458173	hsa-miR-3934	CLIP-seq
MIRT2458174	hsa-miR-4313	CLIP-seq
MIRT2458175	hsa-miR-4726-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	26517842, 29276004
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IBA	21873635
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA	21873635
GO:0007264	Process	Small GTPase mediated signal transduction	IEA
GO:0008360	Process	Regulation of cell shape	IBA	21873635
GO:0019901	Function	Protein kinase binding	IBA	21873635
GO:0030865	Process	Cortical cytoskeleton organization	IBA	21873635
GO:0031410	Component	Cytoplasmic vesicle	IBA	21873635
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA	21873635
GO:0042995	Component	Cell projection	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043652	Process	Engulfment of apoptotic cell	IBA	21873635
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

Other IDs

• MIM: 607352
• HGNC: 18756
• e!Ensembl: ENSG00000008853

Protein

• UniProt ID: Q9BYZ6
• Protein name: Rho-related BTB domain-containing protein 2 (Deleted in breast cancer 2 gene protein) (p83)
• Protein function: Regulator of cell proliferation and apoptosis (PubMed:21801820). It likely functions as a substrate-adapter that recruits key substrates, e.g. MSI2, to CUL3-based ubiquitin ligase complexes for degradation (PubMed:15107402, PubMed:27941885). Req
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00071	Ras	16 → 209	Ras family	Domain
  PF00651	BTB	381 → 472	BTB/POZ domain	Domain
  PF00651	BTB	490 → 598	BTB/POZ domain	Domain

• Sequence:

  MDSDMDYERPNVETIKCVVVGDNAVGKTRLICARACNATLTQYQLLATHVPTVWAIDQYR
  VCQEVLERSRDVVDDVSVSLRLWDTFGDHHKDRRFAYGRSDVVVLCFSIANPNSLHHVKT
  MWYPEIKHFCPRAPVILVGCQLDLRYADLEAVNRARRPLARPIKPNEILPPEKGREVAKE
  LGIPYYETSVVAQFGIKDVFDNAIRAALISRRHLQFWKSHLRNVQRPLLQAPFLPPKPPP
  PIIVVPDPPSSSEECPAHLLEDPLCADVILVLQERVRIFAHKIYLSTSSSKFYDLFLMDL
  SEGELGGPSEPGGTHPEDHQGHSDQHHHHHHHHHGRDFLLRAASFDVCESVDEAGGSGPA
  GLRASTSDGILRGNGTGYLPGRGRVLSSWSRAFVSIQEEMAEDPLTYKSRLMVVVKMDSS
  IQPGPFRAVLKYLYTGELDENERDLMHIAHIAELLEVFDLRMMVANILNNEAFMNQEITK
  AFHVRRTNRVKECLAKGTFSDVTFILDDGTISAHKPLLISSCDWMAAMFGGPFVESSTRE
  VVFPYTSKSCMRAVLEYLYTGMFTSSPDLDDMKLIILANRLCLPHLVALTEQYTVTGLME
  ATQMMVDIDGDVLVFLELAQFHCAYQLADWCLHHICTNYNNVCRKFPRDMKAMSPENQEY
  FEKHRWPPVWYLKEEDHYQRARKEREKEDYLHLKRQPKRRWLFWNSPSSPSSSAASSSSP
  SSSSAVV

• Sequence length: 727

Pathways

KEGG:

Ubiquitin mediated proteolysis

Reactome:

Rho GTPase cycle

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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	26740508
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	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	29768694, 29276004, 26740508
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	26740508
Renal carcinoma	Renal Cell Carcinoma	rs121913668, rs121913670, rs121913243, rs786202724	28598434
Rett syndrome	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

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar hypoplasia	Cerebellar Hypoplasia
Cerebral cortical atrophy	Cerebral cortical atrophy
Congenital epicanthus	Congenital Epicanthus
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Macrotia	Macrotia
Micrognathism	Micrognathism
Movement disorders	Movement Disorders
Nervous system diseases	Peripheral Nervous System Diseases		20864405
Phakomatosis pigmentovascularis	Port-Wine Stain
Status epilepticus	Status Epilepticus
Syndactyly of the toes	2-3 toe syndactyly