HNRNPR (heterogeneous nuclear ribonucleoprotein R)

Gene

• Entrez ID: 10236
• Gene name: Heterogeneous nuclear ribonucleoprotein R
• Gene symbol: HNRNPR
• Synonyms: HNRPR, NEDDFSB, hnRNP-R
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple trans

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553153365	G>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031331	hsa-miR-18a-5p	Sequencing	20371350
MIRT040144	hsa-miR-615-3p	CLASH	23622248
MIRT038314	hsa-miR-130b-5p	CLASH	23622248
MIRT036632	hsa-miR-940	CLASH	23622248
MIRT657328	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT657327	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT657326	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT657325	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT657324	hsa-miR-5096	HITS-CLIP	23824327
MIRT547936	hsa-miR-409-3p	PAR-CLIP	21572407
MIRT547935	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT547934	hsa-miR-1197	PAR-CLIP	21572407
MIRT547933	hsa-miR-33a-3p	PAR-CLIP	21572407
MIRT547932	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT547931	hsa-miR-4307	PAR-CLIP	21572407
MIRT547930	hsa-miR-2052	PAR-CLIP	21572407
MIRT547929	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT547928	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT547927	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT547926	hsa-miR-183-3p	PAR-CLIP	21572407
MIRT547925	hsa-miR-4452	PAR-CLIP	21572407
MIRT547924	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT506994	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT506993	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT506992	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT506991	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT506990	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT506989	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT506988	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT506987	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT506986	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT506985	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT506984	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT506983	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT506982	hsa-miR-302e	PAR-CLIP	23446348
MIRT506981	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT506980	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT506979	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT506978	hsa-miR-520b	PAR-CLIP	23446348
MIRT506977	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT506976	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT506975	hsa-miR-520e	PAR-CLIP	23446348
MIRT506974	hsa-miR-6505-5p	PAR-CLIP	23446348
MIRT498227	hsa-miR-32-3p	PAR-CLIP	22291592
MIRT498226	hsa-miR-4735-5p	PAR-CLIP	22291592
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT440489	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT440489	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT657328	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT657327	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT657326	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT657325	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT657324	hsa-miR-5096	HITS-CLIP	23824327
MIRT547936	hsa-miR-409-3p	PAR-CLIP	21572407
MIRT547935	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT547934	hsa-miR-1197	PAR-CLIP	21572407
MIRT547933	hsa-miR-33a-3p	PAR-CLIP	21572407
MIRT547932	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT547931	hsa-miR-4307	PAR-CLIP	21572407
MIRT547930	hsa-miR-2052	PAR-CLIP	21572407
MIRT547929	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT547928	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT547927	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT547926	hsa-miR-183-3p	PAR-CLIP	21572407
MIRT547925	hsa-miR-4452	PAR-CLIP	21572407
MIRT547924	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT506994	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT506993	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT506992	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT506991	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT506990	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT506989	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT506988	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT506987	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT506986	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT506985	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT506984	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT506983	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT506982	hsa-miR-302e	PAR-CLIP	23446348
MIRT506981	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT506980	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT506979	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT506978	hsa-miR-520b	PAR-CLIP	23446348
MIRT506977	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT506976	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT506975	hsa-miR-520e	PAR-CLIP	23446348
MIRT506974	hsa-miR-6505-5p	PAR-CLIP	23446348
MIRT498227	hsa-miR-32-3p	PAR-CLIP	22291592
MIRT498226	hsa-miR-4735-5p	PAR-CLIP	22291592
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT1051883	hsa-miR-203	CLIP-seq
MIRT1051884	hsa-miR-3120-3p	CLIP-seq
MIRT1051885	hsa-miR-3133	CLIP-seq
MIRT1051886	hsa-miR-3145-5p	CLIP-seq
MIRT1051887	hsa-miR-380	CLIP-seq
MIRT1051888	hsa-miR-3978	CLIP-seq
MIRT1051889	hsa-miR-4453	CLIP-seq
MIRT1051890	hsa-miR-4495	CLIP-seq
MIRT1051891	hsa-miR-4538	CLIP-seq
MIRT1051892	hsa-miR-4661-5p	CLIP-seq
MIRT1051893	hsa-miR-4666-3p	CLIP-seq
MIRT1051894	hsa-miR-4666-5p	CLIP-seq
MIRT1051895	hsa-miR-4699-3p	CLIP-seq
MIRT1051896	hsa-miR-4705	CLIP-seq
MIRT1051897	hsa-miR-4733-5p	CLIP-seq
MIRT1051898	hsa-miR-494	CLIP-seq
MIRT1051899	hsa-miR-508-5p	CLIP-seq
MIRT1051900	hsa-miR-600	CLIP-seq
MIRT1051901	hsa-miR-643	CLIP-seq
MIRT1051902	hsa-miR-1245	CLIP-seq
MIRT1051903	hsa-miR-3157-5p	CLIP-seq
MIRT1051904	hsa-miR-4659a-3p	CLIP-seq
MIRT1051905	hsa-miR-4659b-3p	CLIP-seq
MIRT1051906	hsa-miR-4690-3p	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT1051908	hsa-miR-3119	CLIP-seq
MIRT1051909	hsa-miR-3125	CLIP-seq
MIRT1051910	hsa-miR-3140-3p	CLIP-seq
MIRT1051911	hsa-miR-3148	CLIP-seq
MIRT1051912	hsa-miR-335	CLIP-seq
MIRT1051913	hsa-miR-3611	CLIP-seq
MIRT1051914	hsa-miR-3613-3p	CLIP-seq
MIRT1051915	hsa-miR-3674	CLIP-seq
MIRT1051916	hsa-miR-3916	CLIP-seq
MIRT1051917	hsa-miR-4436b-3p	CLIP-seq
MIRT1051918	hsa-miR-4471	CLIP-seq
MIRT1051919	hsa-miR-4503	CLIP-seq
MIRT1051920	hsa-miR-4670-3p	CLIP-seq
MIRT1051921	hsa-miR-4680-5p	CLIP-seq
MIRT1051922	hsa-miR-4729	CLIP-seq
MIRT1051923	hsa-miR-4761-3p	CLIP-seq
MIRT1051924	hsa-miR-4772-3p	CLIP-seq
MIRT1051925	hsa-miR-548ac	CLIP-seq
MIRT1051926	hsa-miR-548ae	CLIP-seq
MIRT1051927	hsa-miR-548aj	CLIP-seq
MIRT1051928	hsa-miR-548am	CLIP-seq
MIRT1051929	hsa-miR-548d-3p	CLIP-seq
MIRT1051930	hsa-miR-548x	CLIP-seq
MIRT1051931	hsa-miR-548z	CLIP-seq
MIRT1051932	hsa-miR-583	CLIP-seq
MIRT1051933	hsa-miR-607	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT1051885	hsa-miR-3133	CLIP-seq
MIRT1051912	hsa-miR-335	CLIP-seq
MIRT1051914	hsa-miR-3613-3p	CLIP-seq
MIRT1051915	hsa-miR-3674	CLIP-seq
MIRT2011789	hsa-miR-3935	CLIP-seq
MIRT1051917	hsa-miR-4436b-3p	CLIP-seq
MIRT1051918	hsa-miR-4471	CLIP-seq
MIRT2011790	hsa-miR-4475	CLIP-seq
MIRT1051893	hsa-miR-4666-3p	CLIP-seq
MIRT1051921	hsa-miR-4680-5p	CLIP-seq
MIRT1051896	hsa-miR-4705	CLIP-seq
MIRT1051922	hsa-miR-4729	CLIP-seq
MIRT2011791	hsa-miR-4738-3p	CLIP-seq
MIRT1051923	hsa-miR-4761-3p	CLIP-seq
MIRT1051924	hsa-miR-4772-3p	CLIP-seq
MIRT2011792	hsa-miR-548aa	CLIP-seq
MIRT2011793	hsa-miR-548g	CLIP-seq
MIRT1051933	hsa-miR-607	CLIP-seq
MIRT2244064	hsa-miR-1202	CLIP-seq
MIRT2244065	hsa-miR-127-5p	CLIP-seq
MIRT2244066	hsa-miR-129-5p	CLIP-seq
MIRT2244067	hsa-miR-1305	CLIP-seq
MIRT2244068	hsa-miR-132	CLIP-seq
MIRT1051883	hsa-miR-203	CLIP-seq
MIRT2244069	hsa-miR-212	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT1051908	hsa-miR-3119	CLIP-seq
MIRT1051885	hsa-miR-3133	CLIP-seq
MIRT1051910	hsa-miR-3140-3p	CLIP-seq
MIRT2244070	hsa-miR-3185	CLIP-seq
MIRT2244071	hsa-miR-3662	CLIP-seq
MIRT2244072	hsa-miR-3668	CLIP-seq
MIRT2011789	hsa-miR-3935	CLIP-seq
MIRT2244073	hsa-miR-3972	CLIP-seq
MIRT1051888	hsa-miR-3978	CLIP-seq
MIRT2244074	hsa-miR-4302	CLIP-seq
MIRT2244075	hsa-miR-433	CLIP-seq
MIRT1051893	hsa-miR-4666-3p	CLIP-seq
MIRT1051896	hsa-miR-4705	CLIP-seq
MIRT2244076	hsa-miR-4709-3p	CLIP-seq
MIRT2244077	hsa-miR-4731-3p	CLIP-seq
MIRT1051924	hsa-miR-4772-3p	CLIP-seq
MIRT2244078	hsa-miR-4789-5p	CLIP-seq
MIRT2244079	hsa-miR-4801	CLIP-seq
MIRT2244080	hsa-miR-496	CLIP-seq
MIRT2244081	hsa-miR-498	CLIP-seq
MIRT2244082	hsa-miR-548u	CLIP-seq
MIRT2244083	hsa-miR-648	CLIP-seq
MIRT2244064	hsa-miR-1202	CLIP-seq
MIRT1051902	hsa-miR-1245	CLIP-seq
MIRT2244065	hsa-miR-127-5p	CLIP-seq
MIRT2547109	hsa-miR-129-3p	CLIP-seq
MIRT2244066	hsa-miR-129-5p	CLIP-seq
MIRT2244067	hsa-miR-1305	CLIP-seq
MIRT2244068	hsa-miR-132	CLIP-seq
MIRT2547110	hsa-miR-2054	CLIP-seq
MIRT2244069	hsa-miR-212	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT2547111	hsa-miR-2355-5p	CLIP-seq
MIRT1051908	hsa-miR-3119	CLIP-seq
MIRT1051884	hsa-miR-3120-3p	CLIP-seq
MIRT1051909	hsa-miR-3125	CLIP-seq
MIRT1051910	hsa-miR-3140-3p	CLIP-seq
MIRT1051886	hsa-miR-3145-5p	CLIP-seq
MIRT1051911	hsa-miR-3148	CLIP-seq
MIRT2244070	hsa-miR-3185	CLIP-seq
MIRT2547112	hsa-miR-330-3p	CLIP-seq
MIRT1051912	hsa-miR-335	CLIP-seq
MIRT1051914	hsa-miR-3613-3p	CLIP-seq
MIRT2547113	hsa-miR-3617	CLIP-seq
MIRT2547114	hsa-miR-3646	CLIP-seq
MIRT2244071	hsa-miR-3662	CLIP-seq
MIRT2244072	hsa-miR-3668	CLIP-seq
MIRT1051915	hsa-miR-3674	CLIP-seq
MIRT1051887	hsa-miR-380	CLIP-seq
MIRT1051916	hsa-miR-3916	CLIP-seq
MIRT2011789	hsa-miR-3935	CLIP-seq
MIRT2244073	hsa-miR-3972	CLIP-seq
MIRT2244074	hsa-miR-4302	CLIP-seq
MIRT2244075	hsa-miR-433	CLIP-seq
MIRT2547115	hsa-miR-4422	CLIP-seq
MIRT1051917	hsa-miR-4436b-3p	CLIP-seq
MIRT1051889	hsa-miR-4453	CLIP-seq
MIRT1051918	hsa-miR-4471	CLIP-seq
MIRT2011790	hsa-miR-4475	CLIP-seq
MIRT1051890	hsa-miR-4495	CLIP-seq
MIRT1051919	hsa-miR-4503	CLIP-seq
MIRT1051891	hsa-miR-4538	CLIP-seq
MIRT1051892	hsa-miR-4661-5p	CLIP-seq
MIRT1051921	hsa-miR-4680-5p	CLIP-seq
MIRT1051895	hsa-miR-4699-3p	CLIP-seq
MIRT2244076	hsa-miR-4709-3p	CLIP-seq
MIRT1051922	hsa-miR-4729	CLIP-seq
MIRT2244077	hsa-miR-4731-3p	CLIP-seq
MIRT1051897	hsa-miR-4733-5p	CLIP-seq
MIRT2011791	hsa-miR-4738-3p	CLIP-seq
MIRT1051923	hsa-miR-4761-3p	CLIP-seq
MIRT1051924	hsa-miR-4772-3p	CLIP-seq
MIRT2547116	hsa-miR-4786-3p	CLIP-seq
MIRT2244078	hsa-miR-4789-5p	CLIP-seq
MIRT2244079	hsa-miR-4801	CLIP-seq
MIRT1051898	hsa-miR-494	CLIP-seq
MIRT2244080	hsa-miR-496	CLIP-seq
MIRT2244081	hsa-miR-498	CLIP-seq
MIRT1051899	hsa-miR-508-5p	CLIP-seq
MIRT2547117	hsa-miR-518d-5p	CLIP-seq
MIRT2547118	hsa-miR-519b-5p	CLIP-seq
MIRT2547119	hsa-miR-519c-5p	CLIP-seq
MIRT2547120	hsa-miR-520c-5p	CLIP-seq
MIRT2547121	hsa-miR-526a	CLIP-seq
MIRT2547122	hsa-miR-544	CLIP-seq
MIRT2011792	hsa-miR-548aa	CLIP-seq
MIRT2011793	hsa-miR-548g	CLIP-seq
MIRT2244082	hsa-miR-548u	CLIP-seq
MIRT1051932	hsa-miR-583	CLIP-seq
MIRT1051933	hsa-miR-607	CLIP-seq
MIRT2547123	hsa-miR-641	CLIP-seq
MIRT1051901	hsa-miR-643	CLIP-seq
MIRT2244083	hsa-miR-648	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT2244065	hsa-miR-127-5p	CLIP-seq
MIRT2244066	hsa-miR-129-5p	CLIP-seq
MIRT2244068	hsa-miR-132	CLIP-seq
MIRT2547110	hsa-miR-2054	CLIP-seq
MIRT2244069	hsa-miR-212	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT2547111	hsa-miR-2355-5p	CLIP-seq
MIRT1051908	hsa-miR-3119	CLIP-seq
MIRT1051884	hsa-miR-3120-3p	CLIP-seq
MIRT1051909	hsa-miR-3125	CLIP-seq
MIRT1051910	hsa-miR-3140-3p	CLIP-seq
MIRT1051886	hsa-miR-3145-5p	CLIP-seq
MIRT1051911	hsa-miR-3148	CLIP-seq
MIRT2244070	hsa-miR-3185	CLIP-seq
MIRT2547112	hsa-miR-330-3p	CLIP-seq
MIRT1051912	hsa-miR-335	CLIP-seq
MIRT1051914	hsa-miR-3613-3p	CLIP-seq
MIRT2547113	hsa-miR-3617	CLIP-seq
MIRT1051915	hsa-miR-3674	CLIP-seq
MIRT1051916	hsa-miR-3916	CLIP-seq
MIRT2244074	hsa-miR-4302	CLIP-seq
MIRT2244075	hsa-miR-433	CLIP-seq
MIRT2547115	hsa-miR-4422	CLIP-seq
MIRT1051917	hsa-miR-4436b-3p	CLIP-seq
MIRT1051889	hsa-miR-4453	CLIP-seq
MIRT1051918	hsa-miR-4471	CLIP-seq
MIRT2011790	hsa-miR-4475	CLIP-seq
MIRT1051919	hsa-miR-4503	CLIP-seq
MIRT1051891	hsa-miR-4538	CLIP-seq
MIRT1051892	hsa-miR-4661-5p	CLIP-seq
MIRT1051921	hsa-miR-4680-5p	CLIP-seq
MIRT1051895	hsa-miR-4699-3p	CLIP-seq
MIRT2244076	hsa-miR-4709-3p	CLIP-seq
MIRT1051922	hsa-miR-4729	CLIP-seq
MIRT2011791	hsa-miR-4738-3p	CLIP-seq
MIRT1051923	hsa-miR-4761-3p	CLIP-seq
MIRT1051924	hsa-miR-4772-3p	CLIP-seq
MIRT1051898	hsa-miR-494	CLIP-seq
MIRT1051899	hsa-miR-508-5p	CLIP-seq
MIRT2547122	hsa-miR-544	CLIP-seq
MIRT2011792	hsa-miR-548aa	CLIP-seq
MIRT2011793	hsa-miR-548g	CLIP-seq
MIRT2244082	hsa-miR-548u	CLIP-seq
MIRT1051932	hsa-miR-583	CLIP-seq
MIRT1051933	hsa-miR-607	CLIP-seq
MIRT2547123	hsa-miR-641	CLIP-seq
MIRT1051901	hsa-miR-643	CLIP-seq
MIRT2244083	hsa-miR-648	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	TAS
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA	21873635
GO:0003723	Function	RNA binding	NAS	9421497
GO:0003729	Function	MRNA binding	IBA	21873635
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0005515	Function	Protein binding	IPI	16169070, 17474147, 25416956, 31515488
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA	9421497
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	NAS	9421497
GO:0005730	Component	Nucleolus	IDA	9421497
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006397	Process	MRNA processing	NAS	9421497
GO:0007623	Process	Circadian rhythm	IEA
GO:0016070	Process	RNA metabolic process	TAS
GO:0030425	Component	Dendrite	IEA
GO:0030426	Component	Growth cone	IEA
GO:0043086	Process	Negative regulation of catalytic activity	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0061157	Process	MRNA destabilization	IEA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:1990904	Component	Ribonucleoprotein complex	IBA	21873635
GO:1990904	Component	Ribonucleoprotein complex	IDA	17289661

Other IDs

• MIM: 607201
• HGNC: 5047
• e!Ensembl: ENSG00000125944

Protein

• UniProt ID: O43390
• Protein name: Heterogeneous nuclear ribonucleoprotein R (hnRNP R)
• Protein function: Component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus.
• PDB: 2DK2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18360	hnRNP_Q_AcD	37 → 106	Heterogeneous nuclear ribonucleoprotein Q acidic domain	Domain
  PF00076	RRM_1	167 → 235	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	248 → 315	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	343 → 405	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

• Sequence:

  MANQVNGNAVQLKEEEEPMDTSSVTHTEHYKTLIEAGLPQKVAERLDEIFQTGLVAYVDL
  DERAIDALREFNEEGALSVLQQFKESDLSHVQNKSAFLCGVMKTYRQREKQGSKVQESTK
  GPDEAKIKALLERTGYTLDVTTGQRKYGGPPPDSVYSGVQPGIGTEVFVGKIPRDLYEDE
  LVPLFEKAGPIWDLRLMMDPLSGQNRGYAFITFCGKEAAQEAVKLCDSYEIRPGKHLGVC
  ISVANNRLFVGSIPKNKTKENILEEFSKVTEGLVDVILYHQPDDKKKNRGFCFLEYEDHK
  SAAQARRRLMSGKVKVWGNVVTVEWADPVEEPDPEVMAKVKVLFVRNLATTVTEEILEKS
  FSEFGKLERVKKLKDYAFVHFEDRGAAVKAMDEMNGKEIEGEEIEIVLAKPPDKKRKERQ
  AARQASRSTAYEDYYYHPPPRMPPPIRGRGRGGGRGGYGYPPDYYGYEDYYDDYYGYDYH
  DYRGGYEDPYYGYDDGYAVRGRGGGRGGRGAPPPPRGRGAPPPRGRAGYSQRGAPLGPPR
  GSRGGRGGPAQQQRGRGSRGSRGNRGGNVGGKRKADGYNQPDSKRRQTNNQQNWGSQPIA
  QQPLQQGGDYSGNYGYNNDNQEFYQDTYGQQWK

• Sequence length: 633

Pathways

Reactome:

mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	21466612
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, rs10520699, rs11852999, 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	21466612
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	26795593
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	21466612
Mental retardation	Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40	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	26795593, 31079900
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	19015982, 22498899, 14623865, 20584894, 22366783, 23734093, 15822126, 20795951, 11773003, 23934111, 17603806, 16757948, 9421497, 25338097, 20167579, 20382278, 15858414, 23756437

Unknown
Disease name	Disease term	dbSNP ID	References
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		21466612