SNRPB (small nuclear ribonucleoprotein polypeptides B and B1)

Gene

• Entrez ID: 6628
• Gene name: Small nuclear ribonucleoprotein polypeptides B and B1
• Gene symbol: SNRPB
• Synonyms (NCBI Gene): CCMS, COD, SNRPB1, Sm-B/B', SmB/B', SmB/SmB', snRNP-B
• Disease Acronyms (UniProt): CCMS
• Chromosome: 20
• Chromosome location: 20p13
• Summary: The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a ro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786201019	C>A,G,T	Pathogenic	Intron variant
rs786201020	C>A,G	Pathogenic	Intron variant
rs786201021	G>T	Pathogenic	Intron variant
rs786201022	G>T	Pathogenic	5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022383	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT045972	hsa-miR-125b-5p	CLASH	23622248
MIRT044720	hsa-miR-320a	CLASH	23622248
MIRT041541	hsa-miR-193b-3p	CLASH	23622248
MIRT508961	hsa-miR-4428	PAR-CLIP	20371350
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	20371350
MIRT508959	hsa-miR-4681	PAR-CLIP	20371350
MIRT508958	hsa-miR-577	PAR-CLIP	20371350
MIRT508957	hsa-miR-4759	PAR-CLIP	20371350
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	20371350
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	20371350
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	20371350
MIRT508952	hsa-miR-4457	PAR-CLIP	20371350
MIRT508950	hsa-miR-5704	PAR-CLIP	20371350
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT083202	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT508961	hsa-miR-4428	PAR-CLIP	20371350
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	20371350
MIRT508959	hsa-miR-4681	PAR-CLIP	20371350
MIRT508958	hsa-miR-577	PAR-CLIP	20371350
MIRT508957	hsa-miR-4759	PAR-CLIP	20371350
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	20371350
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	20371350
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	20371350
MIRT508952	hsa-miR-4457	PAR-CLIP	20371350
MIRT508950	hsa-miR-5704	PAR-CLIP	20371350
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT083202	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT508961	hsa-miR-4428	PAR-CLIP	23446348
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	23446348
MIRT508959	hsa-miR-4681	PAR-CLIP	23446348
MIRT508958	hsa-miR-577	PAR-CLIP	23446348
MIRT508957	hsa-miR-4759	PAR-CLIP	23446348
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	23446348
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	23446348
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	23446348
MIRT508952	hsa-miR-4457	PAR-CLIP	23446348
MIRT508950	hsa-miR-5704	PAR-CLIP	23446348
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	23446348
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	23446348
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	23446348
MIRT083202	hsa-let-7g-3p	PAR-CLIP	23446348
MIRT508961	hsa-miR-4428	PAR-CLIP	20371350
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	20371350
MIRT508959	hsa-miR-4681	PAR-CLIP	20371350
MIRT508958	hsa-miR-577	PAR-CLIP	20371350
MIRT508957	hsa-miR-4759	PAR-CLIP	20371350
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	20371350
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	20371350
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	20371350
MIRT508952	hsa-miR-4457	PAR-CLIP	20371350
MIRT508950	hsa-miR-5704	PAR-CLIP	20371350
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT083202	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT508961	hsa-miR-4428	PAR-CLIP	20371350
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	20371350
MIRT508959	hsa-miR-4681	PAR-CLIP	20371350
MIRT508958	hsa-miR-577	PAR-CLIP	20371350
MIRT508957	hsa-miR-4759	PAR-CLIP	20371350
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	20371350
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	20371350
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	20371350
MIRT508952	hsa-miR-4457	PAR-CLIP	20371350
MIRT508950	hsa-miR-5704	PAR-CLIP	20371350
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT083202	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT508961	hsa-miR-4428	PAR-CLIP	23446348
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	23446348
MIRT508959	hsa-miR-4681	PAR-CLIP	23446348
MIRT508958	hsa-miR-577	PAR-CLIP	23446348
MIRT508957	hsa-miR-4759	PAR-CLIP	23446348
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	23446348
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	23446348
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	23446348
MIRT508952	hsa-miR-4457	PAR-CLIP	23446348
MIRT508950	hsa-miR-5704	PAR-CLIP	23446348
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	23446348
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	23446348
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	23446348
MIRT083202	hsa-let-7g-3p	PAR-CLIP	23446348
MIRT1376104	hsa-miR-1207-5p	CLIP-seq
MIRT1376105	hsa-miR-3150b-3p	CLIP-seq
MIRT1376106	hsa-miR-3160-3p	CLIP-seq
MIRT1376107	hsa-miR-3672	CLIP-seq
MIRT1376108	hsa-miR-4261	CLIP-seq
MIRT1376109	hsa-miR-4270	CLIP-seq
MIRT1376110	hsa-miR-4300	CLIP-seq
MIRT1376111	hsa-miR-4441	CLIP-seq
MIRT1376112	hsa-miR-4514	CLIP-seq
MIRT1376113	hsa-miR-4689	CLIP-seq
MIRT1376114	hsa-miR-4692	CLIP-seq
MIRT1376115	hsa-miR-4763-3p	CLIP-seq
MIRT1376116	hsa-miR-4779	CLIP-seq
MIRT1376117	hsa-miR-4784	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT1376119	hsa-miR-920	CLIP-seq
MIRT1376120	hsa-miR-940	CLIP-seq
MIRT1376104	hsa-miR-1207-5p	CLIP-seq
MIRT1376105	hsa-miR-3150b-3p	CLIP-seq
MIRT1376106	hsa-miR-3160-3p	CLIP-seq
MIRT1376121	hsa-miR-340	CLIP-seq
MIRT1376122	hsa-miR-376a	CLIP-seq
MIRT1376123	hsa-miR-376b	CLIP-seq
MIRT1376108	hsa-miR-4261	CLIP-seq
MIRT1376109	hsa-miR-4270	CLIP-seq
MIRT1376110	hsa-miR-4300	CLIP-seq
MIRT1376111	hsa-miR-4441	CLIP-seq
MIRT1376112	hsa-miR-4514	CLIP-seq
MIRT1376113	hsa-miR-4689	CLIP-seq
MIRT1376114	hsa-miR-4692	CLIP-seq
MIRT1376115	hsa-miR-4763-3p	CLIP-seq
MIRT1376117	hsa-miR-4784	CLIP-seq
MIRT1376124	hsa-miR-4795-3p	CLIP-seq
MIRT1376119	hsa-miR-920	CLIP-seq
MIRT1376120	hsa-miR-940	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT1376104	hsa-miR-1207-5p	CLIP-seq
MIRT1376105	hsa-miR-3150b-3p	CLIP-seq
MIRT1376106	hsa-miR-3160-3p	CLIP-seq
MIRT1376108	hsa-miR-4261	CLIP-seq
MIRT1376109	hsa-miR-4270	CLIP-seq
MIRT1376110	hsa-miR-4300	CLIP-seq
MIRT1376111	hsa-miR-4441	CLIP-seq
MIRT1376112	hsa-miR-4514	CLIP-seq
MIRT2111840	hsa-miR-4536	CLIP-seq
MIRT1376113	hsa-miR-4689	CLIP-seq
MIRT1376114	hsa-miR-4692	CLIP-seq
MIRT1376115	hsa-miR-4763-3p	CLIP-seq
MIRT1376116	hsa-miR-4779	CLIP-seq
MIRT1376117	hsa-miR-4784	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT1376119	hsa-miR-920	CLIP-seq
MIRT1376120	hsa-miR-940	CLIP-seq
MIRT1376104	hsa-miR-1207-5p	CLIP-seq
MIRT1376105	hsa-miR-3150b-3p	CLIP-seq
MIRT1376106	hsa-miR-3160-3p	CLIP-seq
MIRT1376107	hsa-miR-3672	CLIP-seq
MIRT1376108	hsa-miR-4261	CLIP-seq
MIRT1376109	hsa-miR-4270	CLIP-seq
MIRT1376110	hsa-miR-4300	CLIP-seq
MIRT1376111	hsa-miR-4441	CLIP-seq
MIRT1376112	hsa-miR-4514	CLIP-seq
MIRT2111840	hsa-miR-4536	CLIP-seq
MIRT1376113	hsa-miR-4689	CLIP-seq
MIRT1376114	hsa-miR-4692	CLIP-seq
MIRT1376115	hsa-miR-4763-3p	CLIP-seq
MIRT1376116	hsa-miR-4779	CLIP-seq
MIRT1376117	hsa-miR-4784	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT1376119	hsa-miR-920	CLIP-seq
MIRT1376120	hsa-miR-940	CLIP-seq
MIRT2629151	hsa-miR-1204	CLIP-seq
MIRT2629152	hsa-miR-125a-5p	CLIP-seq
MIRT2629153	hsa-miR-125b	CLIP-seq
MIRT2629154	hsa-miR-1291	CLIP-seq
MIRT2629155	hsa-miR-328	CLIP-seq
MIRT2629156	hsa-miR-3664-5p	CLIP-seq
MIRT1376107	hsa-miR-3672	CLIP-seq
MIRT2629157	hsa-miR-3915	CLIP-seq
MIRT2629158	hsa-miR-3928	CLIP-seq
MIRT2629159	hsa-miR-4319	CLIP-seq
MIRT2111840	hsa-miR-4536	CLIP-seq
MIRT2629160	hsa-miR-4633-3p	CLIP-seq
MIRT2629161	hsa-miR-4714-5p	CLIP-seq
MIRT2629162	hsa-miR-4734	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT2629163	hsa-miR-544b	CLIP-seq
MIRT2629164	hsa-miR-587	CLIP-seq
MIRT2629165	hsa-miR-658	CLIP-seq
MIRT2629166	hsa-miR-663b	CLIP-seq
MIRT2629151	hsa-miR-1204	CLIP-seq
MIRT2629152	hsa-miR-125a-5p	CLIP-seq
MIRT2629153	hsa-miR-125b	CLIP-seq
MIRT2629154	hsa-miR-1291	CLIP-seq
MIRT2629155	hsa-miR-328	CLIP-seq
MIRT2629156	hsa-miR-3664-5p	CLIP-seq
MIRT1376107	hsa-miR-3672	CLIP-seq
MIRT2629157	hsa-miR-3915	CLIP-seq
MIRT2629158	hsa-miR-3928	CLIP-seq
MIRT2629159	hsa-miR-4319	CLIP-seq
MIRT2111840	hsa-miR-4536	CLIP-seq
MIRT2629160	hsa-miR-4633-3p	CLIP-seq
MIRT2629161	hsa-miR-4714-5p	CLIP-seq
MIRT2629162	hsa-miR-4734	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT2629163	hsa-miR-544b	CLIP-seq
MIRT2629164	hsa-miR-587	CLIP-seq
MIRT2629165	hsa-miR-658	CLIP-seq
MIRT2629166	hsa-miR-663b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000387	Process	Spliceosomal snRNP assembly	IDA	18984161
GO:0000387	Process	Spliceosomal snRNP assembly	TAS
GO:0000398	Process	MRNA splicing, via spliceosome	IBA	21873635
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28076346, 28781166
GO:0000398	Process	MRNA splicing, via spliceosome	TAS
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IPI	18082603
GO:0005515	Function	Protein binding	IPI	8076607, 11714716, 11748230, 12065586, 12975319, 15105431, 16000308, 16087681, 18951082, 18984161, 19325628, 22365833, 31515488, 32814053
GO:0005634	Component	Nucleus	IDA	28076346, 28781166
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	TAS	2531083
GO:0005682	Component	U5 snRNP	IBA	21873635
GO:0005683	Component	U7 snRNP	IDA	11574479
GO:0005685	Component	U1 snRNP	IBA	21873635
GO:0005685	Component	U1 snRNP	IDA	21113136, 25555158
GO:0005686	Component	U2 snRNP	IBA	21873635
GO:0005687	Component	U4 snRNP	IBA	21873635
GO:0005687	Component	U4 snRNP	IDA	21516107
GO:0005689	Component	U12-type spliceosomal complex	IDA	15146077
GO:0005697	Component	Telomerase holoenzyme complex	IDA	18082603
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IDA	18984161
GO:0005829	Component	Cytosol	TAS
GO:0006369	Process	Termination of RNA polymerase II transcription	TAS
GO:0006479	Process	Protein methylation	IDA	18495660
GO:0007420	Process	Brain development	IEA
GO:0008334	Process	Histone mRNA metabolic process	TAS
GO:0008380	Process	RNA splicing	TAS	2531083
GO:0030532	Component	Small nuclear ribonucleoprotein complex	TAS	2531083
GO:0034709	Component	Methylosome	IDA	18984161
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IBA	21873635
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	26912367
GO:0051170	Process	Import into nucleus	TAS
GO:0070034	Function	Telomerase RNA binding	IPI	18082603
GO:0071004	Component	U2-type prespliceosome	IBA	21873635
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071013	Component	Catalytic step 2 spliceosome	IBA	21873635
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0071204	Component	Histone pre-mRNA 3'end processing complex	IEA
GO:0071208	Function	Histone pre-mRNA DCP binding	IEA
GO:1990446	Function	U1 snRNP binding	IEA
GO:1990447	Function	U2 snRNP binding	IEA

Other IDs

• MIM: 182282
• HGNC: 11153
• e!Ensembl: ENSG00000125835

Protein

• UniProt ID: P14678
• Protein name: Small nuclear ribonucleoprotein-associated proteins B and B' (snRNP-B) (Sm protein B/B') (Sm-B/B') (SmB/B')
• Protein function: Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, Pu
• PDB: 1D3B, 3CW1, 3JCR, 3PGW, 4PJO, 4WZJ, 5MQF, 5O9Z, 5XJC, 5YZG, 5Z56, 5Z57, 5Z58, 6AH0, 6FF7, 6ICZ, 6ID0, 6ID1, 6QDV, 6QW6, 6QX9, 6V4X, 6Y53, 6Y5Q, 7A5P, 7ABG, 7ABI, 7DVQ, 7EVO, 7QTT, 7VPX, 7W59, 7W5A, 7W5B, 8C6J, 8CH6, 8H6E, 8H6J, 8H6K, 8H6L, 8HK1, 8I0P, 8I0R, 8I0S, 8I0T, 8I0U, 8I0V, 8I0W, 8Q7Q, 8Q7V, 8Q7W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01423	LSM	7 → 82	LSM domain	Domain

• Sequence:

  MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCDCDEFRKIKPKNSKQAE
  REEKRVLGLVLLRGENLVSMTVEGPPPKDTGIARVPLAGAAGGPGIGRAAGRGIPAGVPM
  PQAPAGLAGPVRGVGGPSQQVMTPQGRGTVAAAAAAATASIAGAPTQYPPGRGGPPPPMG
  RGAPPPGMMGPPPGMRPPMGPPMGIPPGRGTPMGMPPPGMRPPPPGMRGPPPPGMRPPRP
  

• Sequence length: 240

Pathways

KEGG:

Spliceosome
Systemic lupus erythematosus

Reactome:

SLBP independent Processing of Histone Pre-mRNAs
snRNP Assembly
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
RNA Polymerase II Transcription Termination
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs

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
Cerebrocostomandibular syndrome	Cerebrocostomandibular Syndrome, Cerebrocostomandibular syndrome	rs786201019, rs786201020, rs786201021, rs786201022	25047197, 25504470
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	21364753
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Porencephalic cyst	Porencephalic cyst			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	22876301
Breast Neoplasms	Associate	20418484
Carcinoma Hepatocellular	Associate	33289700, 38189879
Carcinoma Renal Cell	Associate	35617983
Cardiomyopathies	Associate	32631246
Esophageal Neoplasms	Associate	39287291
Glioblastoma	Associate	27287018
Lung Neoplasms	Associate	22876301
Mandibular Injuries	Associate	25047197
Muscular Atrophy Spinal	Associate	11720283
Neoplasms	Associate	33289700, 38189879