SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1)

Gene

• Entrez ID: 6605
• Gene name: SWI/SNF related BAF chromatin remodeling complex subunit E1
• Gene symbol: SMARCE1
• Synonyms (NCBI Gene): BAF57, CSS5
• Disease Acronyms (UniProt): CSS5
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201484943	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs387906857	T>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397509405	G>A	Risk-factor	Stop gained, coding sequence variant
rs397509406	A>G	Risk-factor	Splice donor variant
rs397509407	C>G,T	Risk-factor, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs397509408	->G	Risk-factor	Frameshift variant, coding sequence variant
rs797045990	CACT>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854603	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518166	G>A	Pathogenic	Coding sequence variant, stop gained
rs1060501395	G>A	Pathogenic	Coding sequence variant, stop gained
rs1064796712	GA>TT	Likely-pathogenic	Intron variant
rs1085307924	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1426841589	C>A,T	Pathogenic	Splice donor variant
rs1555605347	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555605750	GC>A	Pathogenic	Frameshift variant, coding sequence variant
rs1555605752	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555605795	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555605893	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597746020	C>T	Uncertain-significance, likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020807	hsa-miR-155-5p	Proteomics	18668040
MIRT027099	hsa-miR-103a-3p	Sequencing	20371350
MIRT029727	hsa-miR-26b-5p	Microarray	19088304
MIRT047936	hsa-miR-30c-5p	CLASH	23622248
MIRT043752	hsa-miR-328-3p	CLASH	23622248
MIRT052720	hsa-miR-1260b	CLASH	23622248
MIRT653368	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653367	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT653366	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653365	hsa-miR-5193	HITS-CLIP	23824327
MIRT287112	hsa-miR-3183	HITS-CLIP	23824327
MIRT287116	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT287119	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653364	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT653363	hsa-miR-4518	HITS-CLIP	23824327
MIRT287120	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT077050	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT077049	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT077055	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT653362	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653361	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653360	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT287121	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT641906	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT641905	hsa-miR-4490	HITS-CLIP	23824327
MIRT641904	hsa-miR-4774-5p	HITS-CLIP	23824327
MIRT641903	hsa-miR-3182	HITS-CLIP	23824327
MIRT641902	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT505593	hsa-miR-107	PAR-CLIP	20371350
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	20371350
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	20371350
MIRT505590	hsa-miR-1184	PAR-CLIP	20371350
MIRT505589	hsa-miR-1205	PAR-CLIP	20371350
MIRT505588	hsa-miR-17-3p	PAR-CLIP	20371350
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	20371350
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	20371350
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	20371350
MIRT505585	hsa-miR-544a	PAR-CLIP	20371350
MIRT505593	hsa-miR-107	PAR-CLIP	21572407
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT554117	hsa-miR-3910	PAR-CLIP	21572407
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	21572407
MIRT554116	hsa-miR-4476	PAR-CLIP	21572407
MIRT554115	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	21572407
MIRT505590	hsa-miR-1184	PAR-CLIP	21572407
MIRT505589	hsa-miR-1205	PAR-CLIP	21572407
MIRT505588	hsa-miR-17-3p	PAR-CLIP	21572407
MIRT554114	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT554113	hsa-miR-3160-3p	PAR-CLIP	21572407
MIRT554112	hsa-miR-558	PAR-CLIP	21572407
MIRT554111	hsa-miR-4487	PAR-CLIP	21572407
MIRT554110	hsa-miR-1256	PAR-CLIP	21572407
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	21572407
MIRT554108	hsa-miR-8065	PAR-CLIP	21572407
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	21572407
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	21572407
MIRT505585	hsa-miR-544a	PAR-CLIP	21572407
MIRT505593	hsa-miR-107	PAR-CLIP	23446348
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	23446348
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	23446348
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	23446348
MIRT505590	hsa-miR-1184	PAR-CLIP	23446348
MIRT505589	hsa-miR-1205	PAR-CLIP	23446348
MIRT505588	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	23446348
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	23446348
MIRT505585	hsa-miR-544a	PAR-CLIP	23446348
MIRT736306	hsa-miR-206	Luciferase reporter assay, RNA-seq, qRT-PCR	32129700
MIRT653368	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653367	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT653366	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653365	hsa-miR-5193	HITS-CLIP	23824327
MIRT287112	hsa-miR-3183	HITS-CLIP	23824327
MIRT287116	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT287119	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653364	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT653363	hsa-miR-4518	HITS-CLIP	23824327
MIRT287120	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT077050	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT077049	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT077055	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT653362	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653361	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653360	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT287121	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT641906	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT641905	hsa-miR-4490	HITS-CLIP	23824327
MIRT641904	hsa-miR-4774-5p	HITS-CLIP	23824327
MIRT641903	hsa-miR-3182	HITS-CLIP	23824327
MIRT641902	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT505593	hsa-miR-107	PAR-CLIP	20371350
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	20371350
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	20371350
MIRT505590	hsa-miR-1184	PAR-CLIP	20371350
MIRT505589	hsa-miR-1205	PAR-CLIP	20371350
MIRT505588	hsa-miR-17-3p	PAR-CLIP	20371350
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	20371350
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	20371350
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	20371350
MIRT505585	hsa-miR-544a	PAR-CLIP	20371350
MIRT505593	hsa-miR-107	PAR-CLIP	21572407
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT554117	hsa-miR-3910	PAR-CLIP	21572407
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	21572407
MIRT554116	hsa-miR-4476	PAR-CLIP	21572407
MIRT554115	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	21572407
MIRT505590	hsa-miR-1184	PAR-CLIP	21572407
MIRT505589	hsa-miR-1205	PAR-CLIP	21572407
MIRT505588	hsa-miR-17-3p	PAR-CLIP	21572407
MIRT554114	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT554113	hsa-miR-3160-3p	PAR-CLIP	21572407
MIRT554112	hsa-miR-558	PAR-CLIP	21572407
MIRT554111	hsa-miR-4487	PAR-CLIP	21572407
MIRT554110	hsa-miR-1256	PAR-CLIP	21572407
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	21572407
MIRT554108	hsa-miR-8065	PAR-CLIP	21572407
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	21572407
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	21572407
MIRT505585	hsa-miR-544a	PAR-CLIP	21572407
MIRT505593	hsa-miR-107	PAR-CLIP	23446348
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	23446348
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	23446348
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	23446348
MIRT505590	hsa-miR-1184	PAR-CLIP	23446348
MIRT505589	hsa-miR-1205	PAR-CLIP	23446348
MIRT505588	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	23446348
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	23446348
MIRT505585	hsa-miR-544a	PAR-CLIP	23446348
MIRT1372042	hsa-miR-103a	CLIP-seq
MIRT1372043	hsa-miR-1200	CLIP-seq
MIRT1372044	hsa-miR-1322	CLIP-seq
MIRT1372045	hsa-miR-135a	CLIP-seq
MIRT1372046	hsa-miR-135b	CLIP-seq
MIRT1372047	hsa-miR-190	CLIP-seq
MIRT1372048	hsa-miR-190b	CLIP-seq
MIRT1372049	hsa-miR-214	CLIP-seq
MIRT1372050	hsa-miR-2467-5p	CLIP-seq
MIRT1372051	hsa-miR-3119	CLIP-seq
MIRT1372052	hsa-miR-3136-5p	CLIP-seq
MIRT1372053	hsa-miR-3144-5p	CLIP-seq
MIRT1372054	hsa-miR-3188	CLIP-seq
MIRT1372055	hsa-miR-3191	CLIP-seq
MIRT1372056	hsa-miR-3199	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372058	hsa-miR-320a	CLIP-seq
MIRT1372059	hsa-miR-320b	CLIP-seq
MIRT1372060	hsa-miR-320c	CLIP-seq
MIRT1372061	hsa-miR-320d	CLIP-seq
MIRT1372062	hsa-miR-323-5p	CLIP-seq
MIRT1372063	hsa-miR-3613-3p	CLIP-seq
MIRT1372064	hsa-miR-3616-3p	CLIP-seq
MIRT1372065	hsa-miR-3619-5p	CLIP-seq
MIRT1372066	hsa-miR-3650	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT1372068	hsa-miR-3663-5p	CLIP-seq
MIRT1372069	hsa-miR-3689a-5p	CLIP-seq
MIRT1372070	hsa-miR-3689b	CLIP-seq
MIRT1372071	hsa-miR-3689e	CLIP-seq
MIRT1372072	hsa-miR-3689f	CLIP-seq
MIRT1372073	hsa-miR-3920	CLIP-seq
MIRT1372074	hsa-miR-3975	CLIP-seq
MIRT1372075	hsa-miR-3977	CLIP-seq
MIRT1372076	hsa-miR-4291	CLIP-seq
MIRT1372077	hsa-miR-4303	CLIP-seq
MIRT1372078	hsa-miR-4324	CLIP-seq
MIRT1372079	hsa-miR-433	CLIP-seq
MIRT1372080	hsa-miR-4429	CLIP-seq
MIRT1372081	hsa-miR-4439	CLIP-seq
MIRT1372082	hsa-miR-4464	CLIP-seq
MIRT1372083	hsa-miR-4474-5p	CLIP-seq
MIRT1372084	hsa-miR-450b-3p	CLIP-seq
MIRT1372085	hsa-miR-4513	CLIP-seq
MIRT1372086	hsa-miR-4515	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT1372088	hsa-miR-455-5p	CLIP-seq
MIRT1372089	hsa-miR-4646-5p	CLIP-seq
MIRT1372090	hsa-miR-4649-3p	CLIP-seq
MIRT1372091	hsa-miR-4652-5p	CLIP-seq
MIRT1372092	hsa-miR-4694-3p	CLIP-seq
MIRT1372093	hsa-miR-4713-3p	CLIP-seq
MIRT1372094	hsa-miR-4719	CLIP-seq
MIRT1372095	hsa-miR-4721	CLIP-seq
MIRT1372096	hsa-miR-4747-5p	CLIP-seq
MIRT1372097	hsa-miR-4748	CLIP-seq
MIRT1372098	hsa-miR-4762-3p	CLIP-seq
MIRT1372099	hsa-miR-4764-5p	CLIP-seq
MIRT1372100	hsa-miR-4799-5p	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT1372102	hsa-miR-485-5p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372104	hsa-miR-515-5p	CLIP-seq
MIRT1372105	hsa-miR-522	CLIP-seq
MIRT1372106	hsa-miR-544	CLIP-seq
MIRT1372107	hsa-miR-544b	CLIP-seq
MIRT1372108	hsa-miR-554	CLIP-seq
MIRT1372109	hsa-miR-577	CLIP-seq
MIRT1372110	hsa-miR-601	CLIP-seq
MIRT1372111	hsa-miR-638	CLIP-seq
MIRT1372112	hsa-miR-760	CLIP-seq
MIRT1372113	hsa-miR-761	CLIP-seq
MIRT1372114	hsa-miR-769-3p	CLIP-seq
MIRT1372115	hsa-miR-873	CLIP-seq
MIRT1372116	hsa-miR-876-3p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372118	hsa-miR-922	CLIP-seq
MIRT1372042	hsa-miR-103a	CLIP-seq
MIRT2110457	hsa-miR-1246	CLIP-seq
MIRT2110458	hsa-miR-1290	CLIP-seq
MIRT2110459	hsa-miR-1912	CLIP-seq
MIRT2110460	hsa-miR-3130-5p	CLIP-seq
MIRT2110461	hsa-miR-3134	CLIP-seq
MIRT2110462	hsa-miR-3167	CLIP-seq
MIRT1372073	hsa-miR-3920	CLIP-seq
MIRT1372082	hsa-miR-4464	CLIP-seq
MIRT2110463	hsa-miR-4482	CLIP-seq
MIRT1372097	hsa-miR-4748	CLIP-seq
MIRT1372098	hsa-miR-4762-3p	CLIP-seq
MIRT1372099	hsa-miR-4764-5p	CLIP-seq
MIRT1372106	hsa-miR-544	CLIP-seq
MIRT1372108	hsa-miR-554	CLIP-seq
MIRT2110464	hsa-miR-876-5p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372042	hsa-miR-103a	CLIP-seq
MIRT1372045	hsa-miR-135a	CLIP-seq
MIRT1372046	hsa-miR-135b	CLIP-seq
MIRT1372051	hsa-miR-3119	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372058	hsa-miR-320a	CLIP-seq
MIRT1372059	hsa-miR-320b	CLIP-seq
MIRT1372060	hsa-miR-320c	CLIP-seq
MIRT1372061	hsa-miR-320d	CLIP-seq
MIRT2333947	hsa-miR-329	CLIP-seq
MIRT2333948	hsa-miR-362-3p	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT2333949	hsa-miR-3941	CLIP-seq
MIRT1372080	hsa-miR-4429	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT2333950	hsa-miR-466	CLIP-seq
MIRT2333951	hsa-miR-4672	CLIP-seq
MIRT2333952	hsa-miR-4773	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372106	hsa-miR-544	CLIP-seq
MIRT2333953	hsa-miR-603	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372044	hsa-miR-1322	CLIP-seq
MIRT1372047	hsa-miR-190	CLIP-seq
MIRT1372048	hsa-miR-190b	CLIP-seq
MIRT2628159	hsa-miR-298	CLIP-seq
MIRT2628160	hsa-miR-30a	CLIP-seq
MIRT2628161	hsa-miR-30b	CLIP-seq
MIRT2628162	hsa-miR-30c	CLIP-seq
MIRT2628163	hsa-miR-30d	CLIP-seq
MIRT2628164	hsa-miR-30e	CLIP-seq
MIRT2628165	hsa-miR-3121-5p	CLIP-seq
MIRT1372052	hsa-miR-3136-5p	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372062	hsa-miR-323-5p	CLIP-seq
MIRT2333947	hsa-miR-329	CLIP-seq
MIRT2628166	hsa-miR-3591-3p	CLIP-seq
MIRT1372063	hsa-miR-3613-3p	CLIP-seq
MIRT2333948	hsa-miR-362-3p	CLIP-seq
MIRT1372066	hsa-miR-3650	CLIP-seq
MIRT2628167	hsa-miR-3653	CLIP-seq
MIRT2628168	hsa-miR-3658	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT2628169	hsa-miR-3678-3p	CLIP-seq
MIRT1372069	hsa-miR-3689a-5p	CLIP-seq
MIRT1372070	hsa-miR-3689b	CLIP-seq
MIRT1372071	hsa-miR-3689e	CLIP-seq
MIRT1372072	hsa-miR-3689f	CLIP-seq
MIRT2628170	hsa-miR-374c	CLIP-seq
MIRT2333949	hsa-miR-3941	CLIP-seq
MIRT1372075	hsa-miR-3977	CLIP-seq
MIRT1372079	hsa-miR-433	CLIP-seq
MIRT1372081	hsa-miR-4439	CLIP-seq
MIRT1372083	hsa-miR-4474-5p	CLIP-seq
MIRT1372085	hsa-miR-4513	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT2333950	hsa-miR-466	CLIP-seq
MIRT2333951	hsa-miR-4672	CLIP-seq
MIRT1372092	hsa-miR-4694-3p	CLIP-seq
MIRT1372094	hsa-miR-4719	CLIP-seq
MIRT2628171	hsa-miR-4731-3p	CLIP-seq
MIRT2628172	hsa-miR-4801	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT2628173	hsa-miR-485-3p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372104	hsa-miR-515-5p	CLIP-seq
MIRT1372105	hsa-miR-522	CLIP-seq
MIRT2628174	hsa-miR-548a-5p	CLIP-seq
MIRT2628175	hsa-miR-548aa	CLIP-seq
MIRT2628176	hsa-miR-548ab	CLIP-seq
MIRT2628177	hsa-miR-548ak	CLIP-seq
MIRT2628178	hsa-miR-548b-5p	CLIP-seq
MIRT2628179	hsa-miR-548c-5p	CLIP-seq
MIRT2628180	hsa-miR-548d-5p	CLIP-seq
MIRT2628181	hsa-miR-548h	CLIP-seq
MIRT2628182	hsa-miR-548i	CLIP-seq
MIRT2628183	hsa-miR-548j	CLIP-seq
MIRT2628184	hsa-miR-548n	CLIP-seq
MIRT2628185	hsa-miR-548t	CLIP-seq
MIRT2628186	hsa-miR-548w	CLIP-seq
MIRT2628187	hsa-miR-548y	CLIP-seq
MIRT1372108	hsa-miR-554	CLIP-seq
MIRT2628188	hsa-miR-555	CLIP-seq
MIRT2628189	hsa-miR-559	CLIP-seq
MIRT2333953	hsa-miR-603	CLIP-seq
MIRT2628190	hsa-miR-655	CLIP-seq
MIRT1372116	hsa-miR-876-3p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372044	hsa-miR-1322	CLIP-seq
MIRT1372047	hsa-miR-190	CLIP-seq
MIRT1372048	hsa-miR-190b	CLIP-seq
MIRT2628159	hsa-miR-298	CLIP-seq
MIRT2628160	hsa-miR-30a	CLIP-seq
MIRT2628161	hsa-miR-30b	CLIP-seq
MIRT2628162	hsa-miR-30c	CLIP-seq
MIRT2628163	hsa-miR-30d	CLIP-seq
MIRT2628164	hsa-miR-30e	CLIP-seq
MIRT2628165	hsa-miR-3121-5p	CLIP-seq
MIRT1372052	hsa-miR-3136-5p	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372062	hsa-miR-323-5p	CLIP-seq
MIRT2333947	hsa-miR-329	CLIP-seq
MIRT2628166	hsa-miR-3591-3p	CLIP-seq
MIRT1372063	hsa-miR-3613-3p	CLIP-seq
MIRT2333948	hsa-miR-362-3p	CLIP-seq
MIRT1372066	hsa-miR-3650	CLIP-seq
MIRT2628167	hsa-miR-3653	CLIP-seq
MIRT2628168	hsa-miR-3658	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT2628169	hsa-miR-3678-3p	CLIP-seq
MIRT1372069	hsa-miR-3689a-5p	CLIP-seq
MIRT1372070	hsa-miR-3689b	CLIP-seq
MIRT1372071	hsa-miR-3689e	CLIP-seq
MIRT1372072	hsa-miR-3689f	CLIP-seq
MIRT2628170	hsa-miR-374c	CLIP-seq
MIRT2333949	hsa-miR-3941	CLIP-seq
MIRT1372079	hsa-miR-433	CLIP-seq
MIRT1372081	hsa-miR-4439	CLIP-seq
MIRT1372085	hsa-miR-4513	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT2333950	hsa-miR-466	CLIP-seq
MIRT2333951	hsa-miR-4672	CLIP-seq
MIRT1372092	hsa-miR-4694-3p	CLIP-seq
MIRT2628171	hsa-miR-4731-3p	CLIP-seq
MIRT2628172	hsa-miR-4801	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT2628173	hsa-miR-485-3p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372105	hsa-miR-522	CLIP-seq
MIRT2628174	hsa-miR-548a-5p	CLIP-seq
MIRT2628175	hsa-miR-548aa	CLIP-seq
MIRT2628176	hsa-miR-548ab	CLIP-seq
MIRT2628177	hsa-miR-548ak	CLIP-seq
MIRT2628178	hsa-miR-548b-5p	CLIP-seq
MIRT2628179	hsa-miR-548c-5p	CLIP-seq
MIRT2628180	hsa-miR-548d-5p	CLIP-seq
MIRT2628181	hsa-miR-548h	CLIP-seq
MIRT2628182	hsa-miR-548i	CLIP-seq
MIRT2628183	hsa-miR-548j	CLIP-seq
MIRT2628184	hsa-miR-548n	CLIP-seq
MIRT2628185	hsa-miR-548t	CLIP-seq
MIRT2628186	hsa-miR-548w	CLIP-seq
MIRT2628187	hsa-miR-548y	CLIP-seq
MIRT2628188	hsa-miR-555	CLIP-seq
MIRT2628189	hsa-miR-559	CLIP-seq
MIRT2333953	hsa-miR-603	CLIP-seq
MIRT2628190	hsa-miR-655	CLIP-seq
MIRT1372116	hsa-miR-876-3p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	TAS	9435219
GO:0000785	Component	Chromatin	HDA	16217013
GO:0003682	Function	Chromatin binding	TAS	9435219
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12192000, 12917342, 15985610, 16051670, 16919237, 17043677, 17363140, 21516116, 24981860, 25416956, 31413325, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006338	Process	Chromatin remodeling	IDA	11726552
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307
GO:0008080	Function	N-acetyltransferase activity	IDA	12192000
GO:0016514	Component	SWI/SNF complex	IBA	21873635
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 11078522
GO:0016922	Function	Nuclear receptor binding	IBA	21873635
GO:0016922	Function	Nuclear receptor binding	IPI	17363140
GO:0022008	Process	Neurogenesis	IEA
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0043044	Process	ATP-dependent chromatin remodeling	HDA	16217013
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IBA	21873635
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	12192000
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IEA
GO:0047485	Function	Protein N-terminus binding	IPI	12917342
GO:0071564	Component	NpBAF complex	ISS
GO:0071565	Component	NBAF complex	ISS

Other IDs

• MIM: 603111
• HGNC: 11109
• e!Ensembl: ENSG00000073584

Protein

• UniProt ID: Q969G3
• Protein name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 (BRG1-associated factor 57) (BAF57)
• Protein function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromati
• PDB: 6LTH, 6LTJ, 7CYU, 7VDV, 7Y8R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	66 → 134	HMG (high mobility group) box	Domain

• Sequence:

  MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIP
  KPPKPPDKPLMPYMRYSRKVWDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYE
  AEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQRQSRMEKGEPYMSIQPAEDPD
  DYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRK
  LEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQ
  EEREKEAAEQAERSQSSIVPEEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEG
  TSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE

• Sequence length: 411

Pathways

KEGG:

ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma

Reactome:

RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	23685749
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
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
Coffin-siris syndrome	Coffin-Siris syndrome, COFFIN-SIRIS SYNDROME 5	rs797045262, rs387906846, rs387906857, rs387907140, rs876657379, rs387907141, rs876657380, rs748363079, rs387907142, rs876657381, rs387907143, rs387907144, rs876657382, rs786205584, rs794727977, rs796052242, rs796052240, rs772995852, rs796052241, rs753933273, rs797045272, rs797045277, rs797045278, rs797045279, rs797045280, rs797045281, rs797045282, rs797045283, rs869312697, rs869312712, rs878854600, rs879253746, rs886040958, rs750447037, rs35441529, rs886041878, rs886041706, rs886044620, rs1057518045, rs1057517825, rs1057518951, rs1057519009, rs1057518984, rs1057518648, rs1057518691, rs1554294674, rs1064793482, rs1085307818, rs1085307695, rs1131691706, rs1131692263, rs1028186690, rs1553153771, rs1555155026, rs1554248236, rs1554265319, rs1554301230, rs1554231836, rs1554231845, rs1554234341, rs1554237269, rs1554265275, rs1554270809, rs1554294698, rs1404726383, rs758120346, rs1555031372, rs1554231278, rs1555155252, rs1555139310, rs1553152590, rs1554298232, rs1554238072, rs773740590, rs1554237992, rs1554237658, rs1554233122, rs1554236040, rs1554256703, rs201653711, rs1554238035, rs1554237785, rs1554232959, rs1555031500, rs1555032051, rs1555032044, rs1555032074, rs1555154946, rs1334099693, rs1555605795, rs1554265271, rs1562328526, rs1562331655, rs772973856, rs1554235834, rs1562347066, rs1562355401, rs377021700, rs1451259945, rs1562345819, rs1554294593, rs1562350940, rs1554231904, rs1565642121, rs1565903353, rs1206884190, rs1565903367, rs1565917836, rs1565896447, rs1562354784, rs1464282327, rs1582601669, rs1582601747, rs1583469292, rs1426841589, rs1582908829, rs1583280025, rs1583368813, rs1583513256, rs1583516082, rs1583438967, rs1554232919, rs1583280152, rs1583451360, rs1289067120, rs1583451146, rs1583502875, rs1554248082, rs1583491381, rs1583491515, rs1583518354, rs1592145571, rs754167205, rs1592118927, rs1592324196, rs1592121202, rs1592289150, rs1592294569, rs1592295890, rs1592295914, rs372368908, rs943407609, rs1417035592, rs1794276185, rs1554265316, rs1554232925	23906836, 22426308, 23929686
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs775394591
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Meningioma	Meningioma, Familial meningioma	rs587776563, rs121434259, rs387906857, rs397509405, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937, rs1589596143, rs2037146593, rs2037146907	23377182
Mental retardation	MENTAL RETARDATION, AUTOSOMAL DOMINANT 12, 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	22426308
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Coffin-Siris Syndrome	Coffin-Siris syndrome, Coffin-Siris syndrome 5			GenCC
Multiple Meningioma	familial multiple meningioma			GenCC
Diabetes	Diabetes			GWAS
Eczema	Eczema			GWAS
Asthma	Asthma			GWAS
Dermatitis	Dermatitis			GWAS
Periodontal Diseases	Periodontal Diseases			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	16538531, 16769725, 18332872
Carcinogenesis	Inhibit	16135788
Carcinoma Hepatocellular	Associate	28740345
Carcinoma Hepatocellular	Inhibit	31611549
Carcinoma Non Small Cell Lung	Associate	25656847
Cell Transformation Neoplastic	Associate	16135788
Coffin Siris syndrome	Associate	30548424, 34180430
Diabetes Mellitus Type 1	Associate	22403184
Endometrial Neoplasms	Associate	25611552
Familial cylindromatosis	Stimulate	16135788
Glioma	Associate	35044082
Hemangioma Cavernous Central Nervous System	Associate	37164167
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	19091943
Lung Diseases	Stimulate	23493350
Lung Neoplasms	Associate	25656847
Lymphedema	Associate	30548424
Meningioma	Inhibit	28474749
Meningioma	Associate	28759666, 29409008, 33319313, 37164167
Mental Retardation X Linked Syndromic Christianson Type	Associate	30548424, 34653234
Myoepithelioma	Associate	25223915
Neoplasms	Associate	16135788, 17591932, 19091943, 25656847
Neoplasms	Inhibit	16538531, 33319313
Neoplasms	Stimulate	23493350
Ovarian Neoplasms	Associate	25611552
Pancreatitis	Associate	22403184
Progesterone Resistance	Associate	17591932
Prostate Cancer Hereditary 8	Associate	37164167
Prostatic Neoplasms	Stimulate	23493350
Spinal Diseases	Associate	37164167
Stomach Neoplasms	Associate	36916408
Tertiary Lymphoid Structures	Stimulate	23493350