LMAN2L (lectin, mannose binding 2 like)

Gene

• Entrez ID: 81562
• Gene name: Lectin, mannose binding 2 like
• Gene symbol: LMAN2L
• Synonyms: MRD69, MRT52, VIPL
• Chromosome: 2
• Chromosome location: 2q11.2
• Summary: This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous le

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs869320632	C>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023127	hsa-miR-124-3p	Microarray	18668037
MIRT030223	hsa-miR-26b-5p	Microarray	19088304
MIRT032054	hsa-miR-16-5p	Proteomics	18668040
MIRT719508	hsa-miR-34b-3p	HITS-CLIP	19536157
MIRT719507	hsa-miR-124-5p	HITS-CLIP	19536157
MIRT719508	hsa-miR-34b-3p	HITS-CLIP	19536157
MIRT719507	hsa-miR-124-5p	HITS-CLIP	19536157
MIRT1111125	hsa-miR-103a	CLIP-seq
MIRT1111126	hsa-miR-107	CLIP-seq
MIRT1111127	hsa-miR-1205	CLIP-seq
MIRT1111128	hsa-miR-1237	CLIP-seq
MIRT1111129	hsa-miR-124	CLIP-seq
MIRT1111130	hsa-miR-1288	CLIP-seq
MIRT1111131	hsa-miR-1293	CLIP-seq
MIRT1111132	hsa-miR-1323	CLIP-seq
MIRT1111133	hsa-miR-146b-3p	CLIP-seq
MIRT1111134	hsa-miR-15a	CLIP-seq
MIRT1111135	hsa-miR-15b	CLIP-seq
MIRT1111136	hsa-miR-16	CLIP-seq
MIRT1111137	hsa-miR-18a	CLIP-seq
MIRT1111138	hsa-miR-18b	CLIP-seq
MIRT1111139	hsa-miR-1909	CLIP-seq
MIRT1111140	hsa-miR-195	CLIP-seq
MIRT1111141	hsa-miR-2682	CLIP-seq
MIRT1111142	hsa-miR-296-3p	CLIP-seq
MIRT1111143	hsa-miR-2964a-5p	CLIP-seq
MIRT1111144	hsa-miR-3153	CLIP-seq
MIRT1111145	hsa-miR-3154	CLIP-seq
MIRT1111146	hsa-miR-3157-3p	CLIP-seq
MIRT1111147	hsa-miR-3169	CLIP-seq
MIRT1111148	hsa-miR-3173-5p	CLIP-seq
MIRT1111149	hsa-miR-342-5p	CLIP-seq
MIRT1111150	hsa-miR-34a	CLIP-seq
MIRT1111151	hsa-miR-34c-5p	CLIP-seq
MIRT1111152	hsa-miR-3671	CLIP-seq
MIRT1111153	hsa-miR-3714	CLIP-seq
MIRT1111154	hsa-miR-378g	CLIP-seq
MIRT1111155	hsa-miR-3910	CLIP-seq
MIRT1111156	hsa-miR-424	CLIP-seq
MIRT1111157	hsa-miR-4292	CLIP-seq
MIRT1111158	hsa-miR-4303	CLIP-seq
MIRT1111159	hsa-miR-4310	CLIP-seq
MIRT1111160	hsa-miR-4317	CLIP-seq
MIRT1111161	hsa-miR-4418	CLIP-seq
MIRT1111162	hsa-miR-4436b-3p	CLIP-seq
MIRT1111163	hsa-miR-4468	CLIP-seq
MIRT1111164	hsa-miR-4483	CLIP-seq
MIRT1111165	hsa-miR-449a	CLIP-seq
MIRT1111166	hsa-miR-449b	CLIP-seq
MIRT1111167	hsa-miR-449c	CLIP-seq
MIRT1111168	hsa-miR-4512	CLIP-seq
MIRT1111169	hsa-miR-4651	CLIP-seq
MIRT1111170	hsa-miR-4664-5p	CLIP-seq
MIRT1111171	hsa-miR-4682	CLIP-seq
MIRT1111172	hsa-miR-4685-5p	CLIP-seq
MIRT1111173	hsa-miR-4706	CLIP-seq
MIRT1111174	hsa-miR-4735-3p	CLIP-seq
MIRT1111175	hsa-miR-4749-5p	CLIP-seq
MIRT1111176	hsa-miR-4778-5p	CLIP-seq
MIRT1111177	hsa-miR-4792	CLIP-seq
MIRT1111178	hsa-miR-497	CLIP-seq
MIRT1111179	hsa-miR-499-3p	CLIP-seq
MIRT1111180	hsa-miR-499a-3p	CLIP-seq
MIRT1111181	hsa-miR-506	CLIP-seq
MIRT1111182	hsa-miR-509-3-5p	CLIP-seq
MIRT1111183	hsa-miR-509-5p	CLIP-seq
MIRT1111184	hsa-miR-548an	CLIP-seq
MIRT1111185	hsa-miR-548o	CLIP-seq
MIRT1111186	hsa-miR-576-3p	CLIP-seq
MIRT1111187	hsa-miR-608	CLIP-seq
MIRT1111188	hsa-miR-615-5p	CLIP-seq
MIRT1111189	hsa-miR-661	CLIP-seq
MIRT1111190	hsa-miR-744	CLIP-seq
MIRT1111191	hsa-miR-874	CLIP-seq
MIRT1111192	hsa-miR-1193	CLIP-seq
MIRT1111127	hsa-miR-1205	CLIP-seq
MIRT1111193	hsa-miR-1228	CLIP-seq
MIRT1111194	hsa-miR-1236	CLIP-seq
MIRT1111128	hsa-miR-1237	CLIP-seq
MIRT1111129	hsa-miR-124	CLIP-seq
MIRT1111195	hsa-miR-1251	CLIP-seq
MIRT1111196	hsa-miR-1285	CLIP-seq
MIRT1111130	hsa-miR-1288	CLIP-seq
MIRT1111197	hsa-miR-1301	CLIP-seq
MIRT1111132	hsa-miR-1323	CLIP-seq
MIRT1111198	hsa-miR-188-3p	CLIP-seq
MIRT1111139	hsa-miR-1909	CLIP-seq
MIRT1111199	hsa-miR-198	CLIP-seq
MIRT1111200	hsa-miR-3065-3p	CLIP-seq
MIRT1111144	hsa-miR-3153	CLIP-seq
MIRT1111145	hsa-miR-3154	CLIP-seq
MIRT1111201	hsa-miR-3155	CLIP-seq
MIRT1111202	hsa-miR-3155b	CLIP-seq
MIRT1111147	hsa-miR-3169	CLIP-seq
MIRT1111203	hsa-miR-3187-5p	CLIP-seq
MIRT1111204	hsa-miR-3202	CLIP-seq
MIRT1111205	hsa-miR-326	CLIP-seq
MIRT1111206	hsa-miR-330-5p	CLIP-seq
MIRT1111207	hsa-miR-377	CLIP-seq
MIRT1111154	hsa-miR-378g	CLIP-seq
MIRT1111208	hsa-miR-3973	CLIP-seq
MIRT1111209	hsa-miR-412	CLIP-seq
MIRT1111210	hsa-miR-4291	CLIP-seq
MIRT1111158	hsa-miR-4303	CLIP-seq
MIRT1111161	hsa-miR-4418	CLIP-seq
MIRT1111211	hsa-miR-4486	CLIP-seq
MIRT1111168	hsa-miR-4512	CLIP-seq
MIRT1111212	hsa-miR-451b	CLIP-seq
MIRT1111213	hsa-miR-4533	CLIP-seq
MIRT1111214	hsa-miR-4659a-3p	CLIP-seq
MIRT1111215	hsa-miR-4659b-3p	CLIP-seq
MIRT1111216	hsa-miR-4660	CLIP-seq
MIRT1111171	hsa-miR-4682	CLIP-seq
MIRT1111217	hsa-miR-4690-5p	CLIP-seq
MIRT1111173	hsa-miR-4706	CLIP-seq
MIRT1111218	hsa-miR-4717-3p	CLIP-seq
MIRT1111175	hsa-miR-4749-5p	CLIP-seq
MIRT1111219	hsa-miR-4753-3p	CLIP-seq
MIRT1111220	hsa-miR-4796-3p	CLIP-seq
MIRT1111221	hsa-miR-4802-3p	CLIP-seq
MIRT1111222	hsa-miR-484	CLIP-seq
MIRT1111179	hsa-miR-499-3p	CLIP-seq
MIRT1111180	hsa-miR-499a-3p	CLIP-seq
MIRT1111223	hsa-miR-5047	CLIP-seq
MIRT1111181	hsa-miR-506	CLIP-seq
MIRT1111182	hsa-miR-509-3-5p	CLIP-seq
MIRT1111183	hsa-miR-509-5p	CLIP-seq
MIRT1111224	hsa-miR-520g	CLIP-seq
MIRT1111225	hsa-miR-520h	CLIP-seq
MIRT1111226	hsa-miR-532-3p	CLIP-seq
MIRT1111184	hsa-miR-548an	CLIP-seq
MIRT1111185	hsa-miR-548o	CLIP-seq
MIRT1111227	hsa-miR-612	CLIP-seq
MIRT1111188	hsa-miR-615-5p	CLIP-seq
MIRT1111190	hsa-miR-744	CLIP-seq
MIRT1111228	hsa-miR-767-3p	CLIP-seq
MIRT1111229	hsa-miR-888	CLIP-seq
MIRT1111230	hsa-miR-942	CLIP-seq
MIRT1111129	hsa-miR-124	CLIP-seq
MIRT1111153	hsa-miR-3714	CLIP-seq
MIRT1111155	hsa-miR-3910	CLIP-seq
MIRT1111168	hsa-miR-4512	CLIP-seq
MIRT2031044	hsa-miR-4662a-5p	CLIP-seq
MIRT1111181	hsa-miR-506	CLIP-seq
MIRT1111125	hsa-miR-103a	CLIP-seq
MIRT1111126	hsa-miR-107	CLIP-seq
MIRT1111130	hsa-miR-1288	CLIP-seq
MIRT1111133	hsa-miR-146b-3p	CLIP-seq
MIRT1111134	hsa-miR-15a	CLIP-seq
MIRT1111135	hsa-miR-15b	CLIP-seq
MIRT1111136	hsa-miR-16	CLIP-seq
MIRT1111140	hsa-miR-195	CLIP-seq
MIRT1111143	hsa-miR-2964a-5p	CLIP-seq
MIRT1111146	hsa-miR-3157-3p	CLIP-seq
MIRT1111147	hsa-miR-3169	CLIP-seq
MIRT1111148	hsa-miR-3173-5p	CLIP-seq
MIRT1111204	hsa-miR-3202	CLIP-seq
MIRT1111156	hsa-miR-424	CLIP-seq
MIRT1111157	hsa-miR-4292	CLIP-seq
MIRT1111159	hsa-miR-4310	CLIP-seq
MIRT1111160	hsa-miR-4317	CLIP-seq
MIRT1111161	hsa-miR-4418	CLIP-seq
MIRT1111168	hsa-miR-4512	CLIP-seq
MIRT1111213	hsa-miR-4533	CLIP-seq
MIRT2261807	hsa-miR-4645-5p	CLIP-seq
MIRT2261808	hsa-miR-4673	CLIP-seq
MIRT1111218	hsa-miR-4717-3p	CLIP-seq
MIRT1111221	hsa-miR-4802-3p	CLIP-seq
MIRT1111178	hsa-miR-497	CLIP-seq
MIRT1111179	hsa-miR-499-3p	CLIP-seq
MIRT1111180	hsa-miR-499a-3p	CLIP-seq
MIRT1111182	hsa-miR-509-3-5p	CLIP-seq
MIRT1111183	hsa-miR-509-5p	CLIP-seq
MIRT1111186	hsa-miR-576-3p	CLIP-seq
MIRT1111191	hsa-miR-874	CLIP-seq
MIRT1111219	hsa-miR-4753-3p	CLIP-seq
MIRT1111142	hsa-miR-296-3p	CLIP-seq
MIRT2453072	hsa-miR-563	CLIP-seq
MIRT2561715	hsa-miR-105	CLIP-seq
MIRT2561716	hsa-miR-1184	CLIP-seq
MIRT1111127	hsa-miR-1205	CLIP-seq
MIRT1111194	hsa-miR-1236	CLIP-seq
MIRT2561717	hsa-miR-1245b-3p	CLIP-seq
MIRT1111195	hsa-miR-1251	CLIP-seq
MIRT2561718	hsa-miR-1272	CLIP-seq
MIRT2561719	hsa-miR-1283	CLIP-seq
MIRT1111197	hsa-miR-1301	CLIP-seq
MIRT1111199	hsa-miR-198	CLIP-seq
MIRT2561720	hsa-miR-223	CLIP-seq
MIRT1111143	hsa-miR-2964a-5p	CLIP-seq
MIRT1111200	hsa-miR-3065-3p	CLIP-seq
MIRT2561721	hsa-miR-3140-3p	CLIP-seq
MIRT1111201	hsa-miR-3155	CLIP-seq
MIRT1111202	hsa-miR-3155b	CLIP-seq
MIRT2561722	hsa-miR-3158-5p	CLIP-seq
MIRT2561723	hsa-miR-3650	CLIP-seq
MIRT2561724	hsa-miR-3665	CLIP-seq
MIRT2561725	hsa-miR-3934	CLIP-seq
MIRT1111208	hsa-miR-3973	CLIP-seq
MIRT2561726	hsa-miR-409-3p	CLIP-seq
MIRT2561727	hsa-miR-4254	CLIP-seq
MIRT2561728	hsa-miR-4267	CLIP-seq
MIRT2561729	hsa-miR-4269	CLIP-seq
MIRT1111210	hsa-miR-4291	CLIP-seq
MIRT2561730	hsa-miR-4323	CLIP-seq
MIRT2561731	hsa-miR-4487	CLIP-seq
MIRT1111212	hsa-miR-451b	CLIP-seq
MIRT2561732	hsa-miR-4633-3p	CLIP-seq
MIRT2561733	hsa-miR-4642	CLIP-seq
MIRT2561734	hsa-miR-4645-3p	CLIP-seq
MIRT2261807	hsa-miR-4645-5p	CLIP-seq
MIRT2561735	hsa-miR-4654	CLIP-seq
MIRT1111216	hsa-miR-4660	CLIP-seq
MIRT2261808	hsa-miR-4673	CLIP-seq
MIRT2561736	hsa-miR-4680-5p	CLIP-seq
MIRT1111217	hsa-miR-4690-5p	CLIP-seq
MIRT1111218	hsa-miR-4717-3p	CLIP-seq
MIRT2561737	hsa-miR-4769-5p	CLIP-seq
MIRT1111220	hsa-miR-4796-3p	CLIP-seq
MIRT1111222	hsa-miR-484	CLIP-seq
MIRT2561738	hsa-miR-490-3p	CLIP-seq
MIRT2561739	hsa-miR-494	CLIP-seq
MIRT1111223	hsa-miR-5047	CLIP-seq
MIRT1111224	hsa-miR-520g	CLIP-seq
MIRT1111225	hsa-miR-520h	CLIP-seq
MIRT2561740	hsa-miR-532-5p	CLIP-seq
MIRT2561741	hsa-miR-544	CLIP-seq
MIRT2561742	hsa-miR-548c-3p	CLIP-seq
MIRT2561743	hsa-miR-606	CLIP-seq
MIRT2561744	hsa-miR-619	CLIP-seq
MIRT2561745	hsa-miR-659	CLIP-seq
MIRT1111229	hsa-miR-888	CLIP-seq
MIRT2561715	hsa-miR-105	CLIP-seq
MIRT2683946	hsa-miR-1182	CLIP-seq
MIRT2561716	hsa-miR-1184	CLIP-seq
MIRT1111127	hsa-miR-1205	CLIP-seq
MIRT1111194	hsa-miR-1236	CLIP-seq
MIRT2561717	hsa-miR-1245b-3p	CLIP-seq
MIRT1111195	hsa-miR-1251	CLIP-seq
MIRT2683947	hsa-miR-1267	CLIP-seq
MIRT2561718	hsa-miR-1272	CLIP-seq
MIRT2561719	hsa-miR-1283	CLIP-seq
MIRT1111197	hsa-miR-1301	CLIP-seq
MIRT1111199	hsa-miR-198	CLIP-seq
MIRT2561720	hsa-miR-223	CLIP-seq
MIRT1111143	hsa-miR-2964a-5p	CLIP-seq
MIRT1111200	hsa-miR-3065-3p	CLIP-seq
MIRT2561721	hsa-miR-3140-3p	CLIP-seq
MIRT1111201	hsa-miR-3155	CLIP-seq
MIRT1111202	hsa-miR-3155b	CLIP-seq
MIRT2561722	hsa-miR-3158-5p	CLIP-seq
MIRT2561723	hsa-miR-3650	CLIP-seq
MIRT2561724	hsa-miR-3665	CLIP-seq
MIRT2561725	hsa-miR-3934	CLIP-seq
MIRT1111208	hsa-miR-3973	CLIP-seq
MIRT2561726	hsa-miR-409-3p	CLIP-seq
MIRT2561727	hsa-miR-4254	CLIP-seq
MIRT2561728	hsa-miR-4267	CLIP-seq
MIRT2561729	hsa-miR-4269	CLIP-seq
MIRT1111210	hsa-miR-4291	CLIP-seq
MIRT2561730	hsa-miR-4323	CLIP-seq
MIRT2561731	hsa-miR-4487	CLIP-seq
MIRT1111212	hsa-miR-451b	CLIP-seq
MIRT2561732	hsa-miR-4633-3p	CLIP-seq
MIRT2561733	hsa-miR-4642	CLIP-seq
MIRT2561734	hsa-miR-4645-3p	CLIP-seq
MIRT2261807	hsa-miR-4645-5p	CLIP-seq
MIRT2561735	hsa-miR-4654	CLIP-seq
MIRT1111216	hsa-miR-4660	CLIP-seq
MIRT2261808	hsa-miR-4673	CLIP-seq
MIRT2561736	hsa-miR-4680-5p	CLIP-seq
MIRT1111217	hsa-miR-4690-5p	CLIP-seq
MIRT1111218	hsa-miR-4717-3p	CLIP-seq
MIRT1111219	hsa-miR-4753-3p	CLIP-seq
MIRT2561737	hsa-miR-4769-5p	CLIP-seq
MIRT1111220	hsa-miR-4796-3p	CLIP-seq
MIRT1111222	hsa-miR-484	CLIP-seq
MIRT2561738	hsa-miR-490-3p	CLIP-seq
MIRT2561739	hsa-miR-494	CLIP-seq
MIRT1111223	hsa-miR-5047	CLIP-seq
MIRT1111224	hsa-miR-520g	CLIP-seq
MIRT1111225	hsa-miR-520h	CLIP-seq
MIRT2561740	hsa-miR-532-5p	CLIP-seq
MIRT2561741	hsa-miR-544	CLIP-seq
MIRT2561742	hsa-miR-548c-3p	CLIP-seq
MIRT2561743	hsa-miR-606	CLIP-seq
MIRT2561744	hsa-miR-619	CLIP-seq
MIRT2561745	hsa-miR-659	CLIP-seq
MIRT1111229	hsa-miR-888	CLIP-seq
MIRT1111230	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005537	Function	Mannose binding	IBA	21873635
GO:0005537	Function	Mannose binding	TAS	12609988
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12609988
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	12878160
GO:0006457	Process	Protein folding	NAS	12609988
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	21873635
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	12878160
GO:0007029	Process	Endoplasmic reticulum organization	IBA	21873635
GO:0007030	Process	Golgi organization	IBA	21873635
GO:0015031	Process	Protein transport	IMP	12878160
GO:0016021	Component	Integral component of membrane	TAS	12609988
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IBA	21873635
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	NAS	12878160
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 609552
• HGNC: 19263
• e!Ensembl: ENSG00000114988

Protein

• UniProt ID: Q9H0V9
• Protein name: VIP36-like protein (Lectin mannose-binding 2-like) (LMAN2-like protein)
• Protein function: May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03388	Lectin_leg-like	49 → 276	Legume-like lectin family	Domain

• Sequence:

  MAATLGPLGSWQQWRRCLSARDGSRMLLLLLLLGSGQGPQQVGAGQTFEYLKREHSLSKP
  YQGVGTGSSSLWNLMGNAMVMTQYIRLTPDMQSKQGALWNRVPCFLRDWELQVHFKIHGQ
  GKKNLHGDGLAIWYTKDRMQPGPVFGNMDKFVGLGVFVDTYPNEEKQQERVFPYISAMVN
  NGSLSYDHERDGRPTELGGCTAIVRNLHYDTFLVIRYVKRHLTIMMDIDGKHEWRDCIEV
  PGVRLPRGYYFGTSSITGDLSDNHDVISLKLFELTVERTPEEEKLHRDVFLPSVDNMKLP
  EMTAPLPPLSGLALFLIVFFSLVFSVFAIVIGIILYNKWQEQSRKRFY

• Sequence length: 348

Pathways

Reactome:

COPII-mediated vesicle transport
Cargo concentration in the ER

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
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	rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, 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, rs1554169267, 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	26566883
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52	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	26566883
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
Non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	23797736
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	23797736
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	24914473
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease name	Disease term	dbSNP ID	References
Absence of septum pellucidum	Absence of septum pellucidum
Bipolar disorder	Bipolar Disorder, Depression, Bipolar		31043756, 22182935, 24914473, 28072414, 31043756
Central visual impairment	Central visual impairment
Cerebral atrophy	Cerebral atrophy
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma	rs137853247	23797736
Cortical dysplasia	Cortical Dysplasia
Dyskinetic syndrome	Dyskinetic syndrome
Dyssomnia	Dyssomnias
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Manic disorder	Manic, Manic Disorder		31043756
Mental depression	Depressive disorder	rs587778876, rs587778877
Motor delay	Clumsiness - motor delay
Salaam seizures	Salaam Seizures
Sleep disorders	Sleep Disorders
Stereotyped behavior	Stereotyped Behavior