SEC23B (SEC23 homolog B, COPII component)

Gene

• Entrez ID: 10483
• Gene name: SEC23 homolog B, COPII component
• Gene symbol: SEC23B
• Synonyms (NCBI Gene): CDA-II, CDAII, CDAN2, CWS7, HEMPAS, hSec23B
• Disease Acronyms (UniProt): CDAN2, CWS7
• Chromosome: 20
• Chromosome location: 20p11.23
• Summary: The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible f

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6045440	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs121918221	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918222	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918223	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918224	C>T	Pathogenic	Stop gained, coding sequence variant
rs121918225	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs121918226	C>T	Pathogenic	Stop gained, coding sequence variant
rs138314893	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs199939108	C>T	Pathogenic	Coding sequence variant, stop gained
rs368458175	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs398124225	C>T	Pathogenic	Coding sequence variant, missense variant
rs398124226	G>A,C	Pathogenic	Splice donor variant
rs398124227	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs534770840	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs727504145	C>T	Pathogenic	Coding sequence variant, missense variant
rs752366963	T>G	Pathogenic	Coding sequence variant, missense variant
rs1216879587	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555788144	CAAGGATT>A	Pathogenic	Coding sequence variant, frameshift variant
rs1555789463	G>A	Likely-pathogenic	Intron variant
rs1568606490	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568617456	C>T	Pathogenic	Stop gained, coding sequence variant
rs1600244935	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1600288964	C>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020211	hsa-miR-130b-3p	Sequencing	20371350
MIRT024934	hsa-miR-215-5p	Microarray	19074876
MIRT026508	hsa-miR-192-5p	Microarray	19074876
MIRT031137	hsa-miR-19b-3p	Sequencing	20371350
MIRT032362	hsa-let-7b-5p	Proteomics	18668040
MIRT663627	hsa-miR-519a-3p	HITS-CLIP	23824327
MIRT663626	hsa-miR-519b-3p	HITS-CLIP	23824327
MIRT663625	hsa-miR-519c-3p	HITS-CLIP	23824327
MIRT663624	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT663623	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT663622	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT663621	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT663620	hsa-miR-302e	HITS-CLIP	23824327
MIRT663619	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT663618	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT663617	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT663616	hsa-miR-520b	HITS-CLIP	23824327
MIRT663615	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT663614	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT663613	hsa-miR-520e	HITS-CLIP	23824327
MIRT663612	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT663611	hsa-miR-1913	HITS-CLIP	23824327
MIRT663610	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT663609	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT663608	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT569677	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT569676	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT569675	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT569673	hsa-miR-5693	HITS-CLIP	23824327
MIRT569674	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT569672	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT647098	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT647097	hsa-miR-3135b	HITS-CLIP	23824327
MIRT647096	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT647095	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT647093	hsa-miR-3652	HITS-CLIP	23824327
MIRT647094	hsa-miR-4430	HITS-CLIP	23824327
MIRT647092	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT569671	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT647090	hsa-miR-5698	HITS-CLIP	23824327
MIRT083163	hsa-miR-8080	PAR-CLIP	20371350
MIRT083155	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT083152	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT020211	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT083153	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT083158	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT083160	hsa-miR-3666	PAR-CLIP	20371350
MIRT083159	hsa-miR-4295	PAR-CLIP	20371350
MIRT083156	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT544706	hsa-miR-4696	PAR-CLIP	20371350
MIRT083162	hsa-miR-4775	PAR-CLIP	20371350
MIRT083161	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT569677	hsa-miR-216a-5p	PAR-CLIP	20371350
MIRT569676	hsa-miR-1285-5p	PAR-CLIP	20371350
MIRT569675	hsa-miR-6890-3p	PAR-CLIP	20371350
MIRT569673	hsa-miR-5693	PAR-CLIP	20371350
MIRT569674	hsa-miR-1304-3p	PAR-CLIP	20371350
MIRT569672	hsa-miR-4772-3p	PAR-CLIP	20371350
MIRT569671	hsa-miR-891a-3p	PAR-CLIP	20371350
MIRT083163	hsa-miR-8080	PAR-CLIP	21572407
MIRT083155	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT083152	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020211	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT083153	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT083158	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT083160	hsa-miR-3666	PAR-CLIP	21572407
MIRT083159	hsa-miR-4295	PAR-CLIP	21572407
MIRT083156	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT544707	hsa-miR-6759-3p	PAR-CLIP	21572407
MIRT544706	hsa-miR-4696	PAR-CLIP	21572407
MIRT083162	hsa-miR-4775	PAR-CLIP	21572407
MIRT083161	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT083154	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT083157	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT569676	hsa-miR-1285-5p	PAR-CLIP	27292025
MIRT569676	hsa-miR-1285-5p	PAR-CLIP	27292025
MIRT569674	hsa-miR-1304-3p	PAR-CLIP	27292025
MIRT569674	hsa-miR-1304-3p	PAR-CLIP	27292025
MIRT569677	hsa-miR-216a-5p	PAR-CLIP	27292025
MIRT569677	hsa-miR-216a-5p	PAR-CLIP	27292025
MIRT569672	hsa-miR-4772-3p	PAR-CLIP	27292025
MIRT569672	hsa-miR-4772-3p	PAR-CLIP	27292025
MIRT569673	hsa-miR-5693	PAR-CLIP	27292025
MIRT569675	hsa-miR-6890-3p	PAR-CLIP	27292025
MIRT569675	hsa-miR-6890-3p	PAR-CLIP	27292025
MIRT569671	hsa-miR-891a-3p	PAR-CLIP	27292025
MIRT569671	hsa-miR-891a-3p	PAR-CLIP	27292025
MIRT663627	hsa-miR-519a-3p	HITS-CLIP	23824327
MIRT663626	hsa-miR-519b-3p	HITS-CLIP	23824327
MIRT663625	hsa-miR-519c-3p	HITS-CLIP	23824327
MIRT663624	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT663623	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT663622	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT663621	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT663620	hsa-miR-302e	HITS-CLIP	23824327
MIRT663619	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT663618	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT663617	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT663616	hsa-miR-520b	HITS-CLIP	23824327
MIRT663615	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT663614	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT663613	hsa-miR-520e	HITS-CLIP	23824327
MIRT663612	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT663611	hsa-miR-1913	HITS-CLIP	23824327
MIRT663610	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT663609	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT663608	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT569677	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT569676	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT569675	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT569673	hsa-miR-5693	HITS-CLIP	23824327
MIRT569674	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT569672	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT647098	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT647097	hsa-miR-3135b	HITS-CLIP	23824327
MIRT647096	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT647095	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT647093	hsa-miR-3652	HITS-CLIP	23824327
MIRT647094	hsa-miR-4430	HITS-CLIP	23824327
MIRT647092	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT569671	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT647090	hsa-miR-5698	HITS-CLIP	23824327
MIRT083163	hsa-miR-8080	PAR-CLIP	20371350
MIRT083155	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT083152	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT020211	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT083153	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT083158	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT083160	hsa-miR-3666	PAR-CLIP	20371350
MIRT083159	hsa-miR-4295	PAR-CLIP	20371350
MIRT083156	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT544706	hsa-miR-4696	PAR-CLIP	20371350
MIRT083162	hsa-miR-4775	PAR-CLIP	20371350
MIRT083161	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT569677	hsa-miR-216a-5p	PAR-CLIP	20371350
MIRT569676	hsa-miR-1285-5p	PAR-CLIP	20371350
MIRT569675	hsa-miR-6890-3p	PAR-CLIP	20371350
MIRT569673	hsa-miR-5693	PAR-CLIP	20371350
MIRT569674	hsa-miR-1304-3p	PAR-CLIP	20371350
MIRT569672	hsa-miR-4772-3p	PAR-CLIP	20371350
MIRT569671	hsa-miR-891a-3p	PAR-CLIP	20371350
MIRT083163	hsa-miR-8080	PAR-CLIP	21572407
MIRT083155	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT083152	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020211	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT083153	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT083158	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT083160	hsa-miR-3666	PAR-CLIP	21572407
MIRT083159	hsa-miR-4295	PAR-CLIP	21572407
MIRT083156	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT544707	hsa-miR-6759-3p	PAR-CLIP	21572407
MIRT544706	hsa-miR-4696	PAR-CLIP	21572407
MIRT083162	hsa-miR-4775	PAR-CLIP	21572407
MIRT083161	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT083154	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT083157	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT1332922	hsa-miR-224	CLIP-seq
MIRT1332923	hsa-miR-3689d	CLIP-seq
MIRT1332924	hsa-miR-3976	CLIP-seq
MIRT1332925	hsa-miR-4477b	CLIP-seq
MIRT1332926	hsa-miR-4682	CLIP-seq
MIRT1332927	hsa-miR-4789-3p	CLIP-seq
MIRT2323139	hsa-miR-873	CLIP-seq
MIRT2323139	hsa-miR-873	CLIP-seq
MIRT2618973	hsa-miR-1343	CLIP-seq
MIRT2618974	hsa-miR-3074-5p	CLIP-seq
MIRT2618975	hsa-miR-323b-5p	CLIP-seq
MIRT2618976	hsa-miR-33a	CLIP-seq
MIRT2618977	hsa-miR-33b	CLIP-seq
MIRT2618978	hsa-miR-3713	CLIP-seq
MIRT2618973	hsa-miR-1343	CLIP-seq
MIRT2618974	hsa-miR-3074-5p	CLIP-seq
MIRT2618975	hsa-miR-323b-5p	CLIP-seq
MIRT2618976	hsa-miR-33a	CLIP-seq
MIRT2618977	hsa-miR-33b	CLIP-seq
MIRT2618978	hsa-miR-3713	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 25416956, 26522472, 27551091, 31515488, 32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IDA	26522472
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0012505	Component	Endomembrane system	IDA	21364188
GO:0030127	Component	COPII vesicle coat	IBA	21873635
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070971	Component	Endoplasmic reticulum exit site	IBA	21873635
GO:0090110	Process	COPII-coated vesicle cargo loading	IBA	21873635

Other IDs

• MIM: 610512
• HGNC: 10702
• e!Ensembl: ENSG00000101310

Protein

• UniProt ID: Q15437
• Protein name: Protein transport protein Sec23B (hSec23B) (SEC23-related protein B)
• Protein function: Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicle
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04810	zf-Sec23_Sec24	58 → 98	Sec23/Sec24 zinc finger	Domain
  PF04811	Sec23_trunk	126 → 392	Sec23/Sec24 trunk domain	Domain
  PF08033	Sec23_BS	403 → 506	Sec23/Sec24 beta-sandwich domain	Domain
  PF04815	Sec23_helical	520 → 619	Sec23/Sec24 helical domain	Domain
  PF00626	Gelsolin	631 → 720	Gelsolin repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8898360}.
• Sequence:

  MATYLEFIQQNEERDGVRFSWNVWPSSRLEATRMVVPLACLLTPLKERPDLPPVQYEPVL
  CSRPTCKAVLNPLCQVDYRAKLWACNFCFQRNQFPPAYGGISEVNQPAELMPQFSTIEYV
  IQRGAQSPLIFLYVVDTCLEEDDLQALKESLQMSLSLLPPDALVGLITFGRMVQVHELSC
  EGISKSYVFRGTKDLTAKQIQDMLGLTKPAMPMQQARPAQPQEHPFASSRFLQPVHKIDM
  NLTDLLGELQRDPWPVTQGKRPLRSTGVALSIAVGLLEGTFPNTGARIMLFTGGPPTQGP
  GMVVGDELKIPIRSWHDIEKDNARFMKKATKHYEMLANRTAANGHCIDIYACALDQTGLL
  EMKCCANLTGGYMVMGDSFNTSLFKQTFQRIFTKDFNGDFRMAFGATLDVKTSRELKIAG
  AIGPCVSLNVKGPCVSENELGVGGTSQWKICGLDPTSTLGIYFEVVNQHNTPIPQGGRGA
  IQFVTHYQHSSTQRRIRVTTIARNWADVQSQLRHIEAAFDQEAAAVLMARLGVFRAESEE
  GPDVLRWLDRQLIRLCQKFGQYNKEDPTSFRLSDSFSLYPQFMFHLRRSPFLQVFNNSPD
  ESSYYRHHFARQDLTQSLIMIQPILYSYSFHGPPEPVLLDSSSILADRILLMDTFFQIVI
  YLGETIAQWRKAGYQDMPEYENFKHLLQAPLDDAQEILQARFPMPRYINTEHGGSQARFL
  LSKVNPSQTHNNLYAWGQETGAPILTDDVSLQVFMDHLKKLAVSSAC

• Sequence length: 767

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Congenital dyserythropoietic anemia, type III, Anemia of inadequate production	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	19561605
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038
Cafe-au-lait spot	Cafe au lait spots, multiple	rs1057518792, rs1555613206, rs1555608663
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia, Congenital dyserythropoietic anemia, type I, Congenital dyserythropoietic anemia, type II, Congenital dyserythropoietic anemia type II	rs121918221, rs121918222, rs121918224, rs121918225, rs121918226, rs80338697, rs80338699, rs120074166, rs120074167, rs120074168, rs120074169, rs80338694, rs80338696, rs398124225, rs398124226, rs199939108, rs727504145, rs1555788144, rs138334226, rs1403456625, rs1600244935, rs140334403, rs1600288964	19561605, 20941788, 19621418, 22208203, 21252497, 25044164, 27604308, 23453696, 20015893, 21850656, 20381388
Cowden syndrome	COWDEN SYNDROME 7, Cowden syndrome	rs121909218, rs121909219, rs121909220, rs121909221, rs121909222, rs121909223, rs587776666, rs121909224, rs587776667, rs1554898244, rs587776669, rs587776670, rs397515374, rs121909225, rs121909226, rs121909227, rs121909228, rs121909229, rs121909231, rs587776671, rs121909232, rs587776672, rs587776673, rs1589640429, rs121909238, rs121909239, rs121909241, rs121913279, rs121434592, rs121913272, rs398123323, rs587776932, rs397514565, rs121913281, rs587776933, rs397514644, rs397514645, rs146650273, rs398123318, rs398123321, rs121913289, rs398123330, rs398124226, rs587781255, rs587781784, rs587781912, rs587782187, rs587782341, rs587782350, rs587782360, rs587782455, rs587782603, rs587782607, rs587777790, rs587777791, rs587777792, rs587777793, rs587777796, rs121913291, rs121913283, rs786201995, rs786203847, rs786201044, rs786202688, rs786202733, rs786202918, rs398123329, rs786201041, rs786204881, rs786204883, rs786204910, rs786204853, rs398123316, rs398123317, rs786204931, rs786204929, rs786204859, rs786204934, rs786204900, rs786204864, rs786204902, rs786204873, rs786204905, rs746930141, rs786204892, rs587782304, rs121913292, rs797044910, rs863225060, rs121913275, rs869312778, rs869312779, rs869312777, rs869312780, rs121913290, rs876661009, rs876661024, rs876661058, rs876658171, rs876659443, rs762518389, rs876660634, rs876660535, rs876658837, rs878853936, rs878853937, rs878853944, rs886037891, rs886042002, rs886041877, rs1057517809, rs786204858, rs121913294, rs121913287, rs121913288, rs1057519925, rs867262025, rs1057519929, rs1057519942, rs1554893835, rs1057520622, rs1057524874, rs1060500122, rs1060500124, rs1060500115, rs1060500110, rs1060500116, rs1057520900, rs780264945, rs1060500126, rs1060500114, rs1064793663, rs1064793732, rs1064793838, rs1064793243, rs587780006, rs1085308043, rs1085308046, rs1085308052, rs1085308056, rs1085308049, rs1085308041, rs1114167650, rs1554897854, rs1114167621, rs1554897889, rs1554898242, rs1114167622, rs727504114, rs1554900675, rs138336847, rs1114167629, rs398123325, rs1114167632, rs1114167663, rs562015640, rs1114167674, rs1114167667, rs1114167682, rs1114167640, rs1114167624, rs1554898235, rs1554825643, rs1554900593, rs1554825202, rs773176120, rs1554898053, rs1554825631, rs1554898091, rs1554897240, rs765433422, rs1554825206, rs57374291, rs1554898097, rs1554890324, rs1554893792, rs1554898123, rs786201816, rs587782641, rs1554898074, rs1554900615, rs1554890335, rs1554893747, rs1554898090, rs1554898163, rs1554897267, rs1554898139, rs1554897866, rs1554898056, rs1554898161, rs1554825530, rs1554898083, rs1554898085, rs1564566774, rs1564568660, rs1564830522, rs1554900534, rs1554898231, rs1564814541, rs1564828914, rs1564568350, rs1564566706, rs1564568689, rs1554825165, rs786204927, rs1554898210, rs1589665640, rs1589666094, rs1257124719, rs1576947658, rs1339631701, rs1589659492, rs786204862, rs1859977029, rs1859963198	21850656, 20015893, 19561605, 25044164, 21252497, 19621418, 26522472
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
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615
Hemangioma	Hemangioma	rs121917766
Hypogonadotropic hypogonadism with or without anosmia	HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA	rs387906271, rs587777834, rs74315419, rs554675432, rs28939719, rs104894701, rs104894702, rs104894703, rs137852659, rs137852661, rs137852662, rs137852663, rs137852512, rs137852513, rs137852514, rs2146817110, rs137852515, rs2146819139, rs2146919315, rs137852516, rs387906427, rs121918124, rs121918125, rs587777758, rs104893836, rs104893837, rs28933074, rs104893838, rs104893839, rs104893840, rs104893841, rs104893842, rs104893843, rs104893844, rs797044452, rs74452732, rs104893847, rs5030646, rs5030776, rs121909666, rs121909627, rs121909628, rs121909630, rs121909635, rs267606805, rs121909636, rs121909638, rs121909639, rs121909640, rs121909642, rs121909643, rs121909645, rs281865427, rs587777835, rs886037634, rs397515446, rs398123025, rs398124654, rs145221454, rs587776980, rs587776981, rs886037637, rs398122393, rs144292455, rs397515483, rs397518425, rs398124321, rs515726220, rs515726223, rs515726224, rs515726225, rs606231406, rs369176613, rs606231409, rs587777739, rs587777740, rs587777864, rs587783457, rs727505375, rs727505367, rs727505377, rs727505376, rs727505370, rs727505371, rs727505373, rs727505372, rs727505374, rs764659822, rs5030777, rs794727423, rs876661334, rs876661330, rs876661329, rs886039395, rs886039881, rs886037916, rs886040962, rs1057519418, rs374623109, rs1057520209, rs1057520210, rs1060499663, rs773138384, rs1131692039, rs932845258, rs1554570706, rs1554834303, rs1555904591, rs747010865, rs1554603970, rs1555893221, rs1554564353, rs1554594114, rs1602050730, rs1584891562, rs1601946139, rs1586083500, rs1586375906, rs1601965037, rs1601988004, rs1586462917, rs760022956, rs1727077385, rs1726901153, rs1726871489	23453696
Ichthyosis with hypotrichosis	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3	rs1114167426, rs1114167425, rs1114167424, rs762765702, rs530109812, rs774363396, rs760309815, rs140526640, rs1303127476	19561605, 19621418, 20015893, 21850656
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050
Meningioma	Meningioma	rs587776563, rs121434259, rs387906857, rs397509405, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937, rs1589596143, rs2037146593, rs2037146907
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
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Papillary thyroid carcinoma	Papillary thyroid carcinoma	rs751409106
Renal carcinoma	Renal Cell Carcinoma	rs121913668, rs121913670, rs121913243, rs786202724
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Usher syndrome	USHER SYNDROME, TYPE ID	rs80338903, rs397518008, rs111033367, rs121912598, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs137852839, rs137852840, rs2133130286, rs104894651, rs730880268, rs397515345, rs587776546, rs104894652, rs121908140, rs121908141, rs1085307049, rs111033258, rs121908142, rs111033267, rs1553776036, rs121908347, rs111033270, rs727502931, rs121908349, rs121908350, rs111033271, rs121908351, rs796051861, rs121908354, rs1307471318, rs137853001, rs199469706, rs111033260, rs137853003, rs137853004, rs1480243085, rs397515359, rs55983148, rs151045328, rs1403777293, rs121908370, rs121909762, rs796051863, rs796051864, rs796051865, rs121909763, rs796051866, rs796051867, rs121965079, rs41298133, rs1555062984, rs28934610, rs121965080, rs121965081, rs121965082, rs121965083, rs35689081, rs121965085, rs1555102843, rs113624356, rs267606932, rs201539845, rs387906700, rs1554135663, rs775098953, rs786200928, rs786205115, rs786205116, rs587776894, rs1589229634, rs1306987034, rs778110397, rs111033415, rs111033206, rs111033180, rs111033201, rs111033290, rs397516295, rs111033233, rs199897298, rs397516303, rs111033178, rs397516304, rs111033347, rs111033403, rs111033187, rs397516308, rs397516315, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516321, rs397516322, rs111033215, rs199606180, rs397516323, rs111033192, rs111033232, rs397516326, rs111033198, rs111033486, rs111033283, rs397516330, rs397516332, rs111033284, rs111033285, rs397517329, rs397517342, rs183431253, rs367928692, rs397517350, rs370983472, rs397517353, rs397517367, rs371981035, rs397517451, rs397517452, rs202033121, rs397517925, rs397517932, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs111033382, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033526, rs111033518, rs397517981, rs397517983, rs397517984, rs111033385, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518012, rs397518013, rs397518014, rs397518015, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs41308425, rs397518048, rs73090721, rs111033263, rs267600727, rs398124618, rs398124619, rs137853923, rs483353055, rs483353056, rs527236132, rs527236131, rs527236133, rs527236139, rs527236138, rs527236137, rs527236124, rs527236135, rs527236136, rs727504551, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504301, rs727503329, rs373169422, rs730880367, rs376764423, rs377670513, rs797044491, rs797044492, rs797044510, rs782252317, rs797044511, rs797044516, rs797044518, rs746523071, rs786204428, rs748706627, rs750228923, rs794727408, rs794727579, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794729204, rs797045113, rs368049814, rs863224941, rs876657624, rs886037762, rs869312182, rs869312180, rs869312179, rs869312178, rs754391973, rs869312181, rs876657415, rs1057519383, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs773404494, rs876657754, rs753886326, rs876657655, rs782255281, rs1555090368, rs878853233, rs775177930, rs368675850, rs878853407, rs878853413, rs878853405, rs878853404, rs765293412, rs878853410, rs878853378, rs751130485, rs886039450, rs886039449, rs748810737, rs886039867, rs886039893, rs886041502, rs750396156, rs371777049, rs773539640, rs886043626, rs1057517533, rs536593247, rs373208120, rs1057516687, rs1057517224, rs989521806, rs1057516560, rs1057516613, rs1057516351, rs1057516472, rs1057516821, rs758921360, rs1057516780, rs1057516268, rs770832663, rs1057516656, rs1057516974, rs1057517325, rs1057517284, rs758685587, rs1057516342, rs201328768, rs757027638, rs781148814, rs138983888, rs1057517261, rs1057517443, rs1057516474, rs1057517150, rs1057517251, rs1057516892, rs758947077, rs370261904, rs1057517048, rs1057516470, rs1057517182, rs1057517264, rs1057516992, rs1057516770, rs138138689, rs377145777, rs201892914, rs376535635, rs374536346, rs752179149, rs1057518826, rs1057519193, rs1057519225, rs369793306, rs759898765, rs397517979, rs199840367, rs1057520662, rs763797356, rs1057520709, rs1060499714, rs1060499716, rs1060499796, rs1060499800, rs1060499801, rs747656448, rs1064793289, rs200712760, rs1064795047, rs1064793745, rs137954284, rs750803248, rs1064795722, rs750358148, rs1064797134, rs1064797136, rs1064797138, rs1064797153, rs753886165, rs1553258031, rs539192853, rs749702843, rs1003869920, rs1553252388, rs762159022, rs1362058696, rs1553252528, rs1553257502, rs1288381992, rs1285853856, rs1388040238, rs751111524, rs1035024403, rs1553298240, rs746551311, rs1215540106, rs780308389, rs1338169194, rs772808534, rs1554090072, rs777309662, rs1554117973, rs749956288, rs1355262412, rs1555051390, rs116892396, rs782166819, rs782063761, rs1555078942, rs1171417339, rs1555090294, rs1199012623, rs1383147250, rs1555069238, rs1461319754, rs750880909, rs1264310782, rs1553299022, rs754768875, rs1555627787, rs1366496013, rs774573692, rs534534437, rs769838859, rs762551629, rs761469964, rs201730567, rs769348776, rs1553327452, rs1553320397, rs757696771, rs199679165, rs143344549, rs777465132, rs769215629, rs769433759, rs1555051455, rs782539587, rs751176116, rs1553268563, rs141672841, rs866435331, rs782077721, rs1553320542, rs1554857840, rs1554877007, rs936479651, rs148695069, rs1561416879, rs765476745, rs768161313, rs1553252499, rs1553248234, rs1553250192, rs1553252041, rs1177257719, rs200871041, rs1553248216, rs1553261478, rs757676723, rs747160949, rs764917754, rs1295968274, rs764182950, rs753505333, rs747063294, rs1553252052, rs367674026, rs779572631, rs1553257707, rs746447649, rs1553268562, rs1553271002, rs1431048303, rs749452910, rs1553273330, rs1553274448, rs779716464, rs1553257705, rs1485173724, rs1553261372, rs1553250050, rs1553285919, rs1553287118, rs1553250150, rs1553299079, rs1162305984, rs1553250184, rs199782530, rs370327669, rs944675223, rs199982344, rs1553313308, rs1553261479, rs988693758, rs760302201, rs1553313810, rs1414935620, rs749726310, rs1380261595, rs770383273, rs993185407, rs483353054, rs1553273412, rs1269642027, rs1553268582, rs762608746, rs780779563, rs1553287070, rs1553294144, rs772124060, rs1553258122, rs775293551, rs1553272201, rs754374132, rs1553300016, rs1553274424, rs1553300558, rs772100045, rs771051185, rs1553272176, rs1553273421, rs143521854, rs1553300340, rs745350407, rs756623509, rs764797292, rs1284826852, rs767078782, rs1342455785, rs1553320451, rs1177198729, rs372927796, rs1553250627, rs1394737087, rs748961218, rs771583281, rs1188025733, rs868562952, rs758571672, rs1553250952, rs1171672823, rs758303489, rs1553257761, rs1484339054, rs1553258097, rs1553258037, rs781223647, rs376155416, rs1553776061, rs1553776112, rs1553776052, rs1553776135, rs1553772595, rs1553776132, rs1554822897, rs1554823229, rs1554833242, rs1554836566, rs1402893508, rs1554882546, rs1554956088, rs1554806149, rs1554903842, rs1168400018, rs1555032952, rs903145299, rs1554934073, rs1554940316, rs1554822703, rs1554823231, rs1554824185, rs1328440878, rs1554833227, rs1554833314, rs1554872194, rs1554833699, rs1554822891, rs756692340, rs1554833249, rs1554852472, rs1554873550, rs1554883705, rs1554956023, rs1554816541, rs1554903979, rs143842048, rs1304228309, rs1555135419, rs147956944, rs1482487617, rs1207247951, rs1317951509, rs1385324903, rs782787126, rs782064437, rs782292032, rs1472566324, rs766641715, rs1555095933, rs1555099541, rs878864531, rs548172627, rs1555067667, rs755934966, rs1558151555, rs1560449207, rs1253419936, rs1564796487, rs1557720377, rs1564634581, rs767797828, rs201866631, rs1262416703, rs750647872, rs765574676, rs781989117, rs1568445893, rs727502919, rs1558111861, rs1561660434, rs1564794944, rs745571683, rs762226905, rs1558141330, rs758660532, rs41314534, rs1301139848, rs777629750, rs1039517349, rs1190307769, rs749314857, rs1564796673, rs1564808024, rs1561441451, rs1561543496, rs377650415, rs1561790371, rs1561843914, rs1316299165, rs1561805689, rs1559982739, rs1561740143, rs1571657875, rs1360258103, rs201863550, rs754970095, rs201205811, rs760858249, rs770329105, rs759187261, rs1200012430, rs1293202153, rs1591095476, rs1571801514, rs1230303971, rs1580905929, rs1581711527, rs1571949388, rs368770647, rs1571783742, rs1572020896, rs759433119, rs1572088481, rs1415484067, rs1415157305, rs1571703770, rs933370216, rs1439933768, rs1580845586, rs765376986, rs1581135405, rs1589950125, rs1590691343, rs1571703801, rs1386612395, rs1576651623, rs1580567084, rs1276890742, rs1591467894, rs1571876788, rs1580864592, rs764583867, rs1571945476, rs1571953449, rs1571686349, rs1571762632, rs1571941511, rs368687374, rs45555435, rs777701725, rs201625237, rs1576631624, rs1581041519, rs1581196586, rs750027965, rs1591286671, rs1591470904, rs1598584825, rs1656419435, rs754834155, rs1657799383, rs1657965422, rs1657996197, rs1662772955, rs1667316878, rs2030619513, rs2034849647, rs2034850724, rs2034948574, rs2036152207, rs1571701069, rs2038569132, rs2039616380, rs929034631, rs1767988429, rs1416386069, rs1841885880, rs1850678559, rs1850961650, rs1954240719, rs782396605, rs1956938352, rs1571947757, rs1358947010, rs1571701072, rs1571801788, rs1384677442, rs1292050472, rs1591286221, rs1555067598, rs1591369118, rs1296612982, rs760251968, rs1571929573, rs774677256, rs1571657777, rs376674482, rs746618021, rs201845656, rs1580624630, rs1591467918, rs750321557, rs1403618793, rs780036975, rs1424639717, rs1667314337, rs2032147505, rs201529124, rs2034899784, rs376591221, rs1364987785, rs2039614529, rs756193571, rs771766431, rs759981467, rs782281371, rs778934538, rs1359109336, rs767630412, rs1841212177, rs758482449, rs1656901821, rs1662771528, rs1665132445, rs769198746, rs2034852728, rs757154662, rs757525434, rs1758488956, rs1764301206, rs749747871, rs780609120, rs1235430504, rs2034951427, rs1661659605, rs1657036615, rs2034938852

Unknown
Disease term	Disease name	Evidence	References	Source
Hamartoma	Hamartoma Syndrome, Multiple		26522472	ClinVar
Cowden Syndrome	Cowden syndrome 7			GenCC
Neuroticism	Neuroticism			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Anemia	Associate	29893852
Anemia Dyserythropoietic Congenital	Associate	10519996, 20015893, 20941788, 21850656, 22208203, 23453696, 24801240, 27471141, 27784127, 29300242, 31400017, 32759740, 35163229, 35820731, 37373084, 37455305, 9345103
Anemia Hemolytic	Associate	35820731
Breast Neoplasms	Associate	33176066
Carcinogenesis	Associate	29893852
Colorectal Neoplasms	Associate	32123160
Colorectal Neoplasms	Inhibit	32123160
Gaucher Disease	Associate	24801240
Hematologic Diseases	Associate	32098966
Hepatitis B	Associate	30065114
Iron Overload	Associate	29396846, 35163229
Leukemia Erythroblastic Acute	Associate	32759740
Leukemia Myeloid Acute	Associate	32098966
Myelodysplastic Syndromes	Associate	32098966
Neoplasm Metastasis	Associate	32123160
Neoplasms	Associate	28602946, 29893852, 32098966, 32577795, 33176066
Ovalocytosis Hereditary Hemolytic with Defective Erythropoiesis	Associate	20941788, 35163229
Thyroid Neoplasms	Associate	38165228
von Willebrand Disease Type 2	Associate	32577795