RPS23 (ribosomal protein S23)

Gene

• Entrez ID: 6228
• Gene name: Ribosomal protein S23
• Gene symbol: RPS23
• Synonyms: BTDD, MABAS, MCINS, PAMAS, S23, uS12
• Chromosome: 5
• Chromosome location: 5q14.2
• Summary: Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal pro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1060505035	A>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049851	hsa-miR-33a-5p	CLASH	23622248
MIRT049724	hsa-miR-92a-3p	CLASH	23622248
MIRT042095	hsa-miR-484	CLASH	23622248
MIRT035773	hsa-miR-1915-5p	CLASH	23622248
MIRT437863	hsa-miR-542-3p	U118	24762395
MIRT437863	hsa-miR-542-3p	U118	24762395
MIRT509895	hsa-miR-4282	PAR-CLIP	20371350
MIRT509894	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT509893	hsa-miR-139-5p	PAR-CLIP	20371350
MIRT509892	hsa-miR-556-3p	PAR-CLIP	20371350
MIRT509891	hsa-miR-4642	PAR-CLIP	20371350
MIRT509890	hsa-miR-182-5p	PAR-CLIP	20371350
MIRT509889	hsa-miR-1271-5p	PAR-CLIP	20371350
MIRT509888	hsa-miR-96-5p	PAR-CLIP	20371350
MIRT509887	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT509895	hsa-miR-4282	PAR-CLIP	20371350
MIRT509894	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT509893	hsa-miR-139-5p	PAR-CLIP	20371350
MIRT509892	hsa-miR-556-3p	PAR-CLIP	20371350
MIRT509891	hsa-miR-4642	PAR-CLIP	20371350
MIRT509890	hsa-miR-182-5p	PAR-CLIP	20371350
MIRT509889	hsa-miR-1271-5p	PAR-CLIP	20371350
MIRT509888	hsa-miR-96-5p	PAR-CLIP	20371350
MIRT509887	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT509895	hsa-miR-4282	PAR-CLIP	20371350
MIRT509894	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT509892	hsa-miR-556-3p	PAR-CLIP	20371350
MIRT509891	hsa-miR-4642	PAR-CLIP	20371350
MIRT509890	hsa-miR-182-5p	PAR-CLIP	20371350
MIRT509889	hsa-miR-1271-5p	PAR-CLIP	20371350
MIRT509888	hsa-miR-96-5p	PAR-CLIP	20371350
MIRT509887	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT509895	hsa-miR-4282	PAR-CLIP	23446348
MIRT509894	hsa-miR-153-5p	PAR-CLIP	23446348
MIRT509893	hsa-miR-139-5p	PAR-CLIP	23446348
MIRT509892	hsa-miR-556-3p	PAR-CLIP	23446348
MIRT509891	hsa-miR-4642	PAR-CLIP	23446348
MIRT509890	hsa-miR-182-5p	PAR-CLIP	23446348
MIRT509889	hsa-miR-1271-5p	PAR-CLIP	23446348
MIRT509888	hsa-miR-96-5p	PAR-CLIP	23446348
MIRT509887	hsa-miR-129-5p	PAR-CLIP	23446348
MIRT509895	hsa-miR-4282	PAR-CLIP	20371350
MIRT509894	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT509893	hsa-miR-139-5p	PAR-CLIP	20371350
MIRT509892	hsa-miR-556-3p	PAR-CLIP	20371350
MIRT509891	hsa-miR-4642	PAR-CLIP	20371350
MIRT509890	hsa-miR-182-5p	PAR-CLIP	20371350
MIRT509889	hsa-miR-1271-5p	PAR-CLIP	20371350
MIRT509888	hsa-miR-96-5p	PAR-CLIP	20371350
MIRT509887	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT509895	hsa-miR-4282	PAR-CLIP	20371350
MIRT509894	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT509893	hsa-miR-139-5p	PAR-CLIP	20371350
MIRT509892	hsa-miR-556-3p	PAR-CLIP	20371350
MIRT509891	hsa-miR-4642	PAR-CLIP	20371350
MIRT509890	hsa-miR-182-5p	PAR-CLIP	20371350
MIRT509889	hsa-miR-1271-5p	PAR-CLIP	20371350
MIRT509888	hsa-miR-96-5p	PAR-CLIP	20371350
MIRT509887	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT509895	hsa-miR-4282	PAR-CLIP	20371350
MIRT509894	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT509892	hsa-miR-556-3p	PAR-CLIP	20371350
MIRT509891	hsa-miR-4642	PAR-CLIP	20371350
MIRT509890	hsa-miR-182-5p	PAR-CLIP	20371350
MIRT509889	hsa-miR-1271-5p	PAR-CLIP	20371350
MIRT509888	hsa-miR-96-5p	PAR-CLIP	20371350
MIRT509887	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT509895	hsa-miR-4282	PAR-CLIP	23446348
MIRT509894	hsa-miR-153-5p	PAR-CLIP	23446348
MIRT509893	hsa-miR-139-5p	PAR-CLIP	23446348
MIRT509892	hsa-miR-556-3p	PAR-CLIP	23446348
MIRT509891	hsa-miR-4642	PAR-CLIP	23446348
MIRT509890	hsa-miR-182-5p	PAR-CLIP	23446348
MIRT509889	hsa-miR-1271-5p	PAR-CLIP	23446348
MIRT509888	hsa-miR-96-5p	PAR-CLIP	23446348
MIRT509887	hsa-miR-129-5p	PAR-CLIP	23446348
MIRT756358	hsa-miR-338-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36562844
MIRT1317811	hsa-miR-106a	CLIP-seq
MIRT1317812	hsa-miR-106b	CLIP-seq
MIRT1317813	hsa-miR-124	CLIP-seq
MIRT1317814	hsa-miR-1271	CLIP-seq
MIRT1317815	hsa-miR-1323	CLIP-seq
MIRT1317816	hsa-miR-140-3p	CLIP-seq
MIRT1317817	hsa-miR-17	CLIP-seq
MIRT1317818	hsa-miR-182	CLIP-seq
MIRT1317819	hsa-miR-197	CLIP-seq
MIRT1317820	hsa-miR-20a	CLIP-seq
MIRT1317821	hsa-miR-20b	CLIP-seq
MIRT1317822	hsa-miR-21	CLIP-seq
MIRT1317823	hsa-miR-23a	CLIP-seq
MIRT1317824	hsa-miR-23b	CLIP-seq
MIRT1317825	hsa-miR-23c	CLIP-seq
MIRT1317826	hsa-miR-302a	CLIP-seq
MIRT1317827	hsa-miR-302b	CLIP-seq
MIRT1317828	hsa-miR-302c	CLIP-seq
MIRT1317829	hsa-miR-302d	CLIP-seq
MIRT1317830	hsa-miR-302e	CLIP-seq
MIRT1317831	hsa-miR-3120-3p	CLIP-seq
MIRT1317832	hsa-miR-3138	CLIP-seq
MIRT1317833	hsa-miR-3148	CLIP-seq
MIRT1317834	hsa-miR-3174	CLIP-seq
MIRT1317835	hsa-miR-3616-5p	CLIP-seq
MIRT1317836	hsa-miR-3617	CLIP-seq
MIRT1317837	hsa-miR-3647-3p	CLIP-seq
MIRT1317838	hsa-miR-3647-5p	CLIP-seq
MIRT1317839	hsa-miR-3660	CLIP-seq
MIRT1317840	hsa-miR-3682-5p	CLIP-seq
MIRT1317841	hsa-miR-3688-3p	CLIP-seq
MIRT1317842	hsa-miR-372	CLIP-seq
MIRT1317843	hsa-miR-373	CLIP-seq
MIRT1317844	hsa-miR-3919	CLIP-seq
MIRT1317845	hsa-miR-3921	CLIP-seq
MIRT1317846	hsa-miR-4276	CLIP-seq
MIRT1317847	hsa-miR-4427	CLIP-seq
MIRT1317848	hsa-miR-4428	CLIP-seq
MIRT1317849	hsa-miR-4434	CLIP-seq
MIRT1317850	hsa-miR-4438	CLIP-seq
MIRT1317851	hsa-miR-4516	CLIP-seq
MIRT1317852	hsa-miR-4520a-3p	CLIP-seq
MIRT1317853	hsa-miR-4526	CLIP-seq
MIRT1317854	hsa-miR-4653-5p	CLIP-seq
MIRT1317855	hsa-miR-4668-3p	CLIP-seq
MIRT1317856	hsa-miR-4680-3p	CLIP-seq
MIRT1317857	hsa-miR-4704-5p	CLIP-seq
MIRT1317858	hsa-miR-4709-3p	CLIP-seq
MIRT1317859	hsa-miR-4717-3p	CLIP-seq
MIRT1317860	hsa-miR-4731-5p	CLIP-seq
MIRT1317861	hsa-miR-4752	CLIP-seq
MIRT1317862	hsa-miR-4796-5p	CLIP-seq
MIRT1317863	hsa-miR-4800-5p	CLIP-seq
MIRT1317864	hsa-miR-488	CLIP-seq
MIRT1317865	hsa-miR-493	CLIP-seq
MIRT1317866	hsa-miR-506	CLIP-seq
MIRT1317867	hsa-miR-5095	CLIP-seq
MIRT1317868	hsa-miR-5096	CLIP-seq
MIRT1317869	hsa-miR-512-3p	CLIP-seq
MIRT1317870	hsa-miR-519d	CLIP-seq
MIRT1317871	hsa-miR-520a-3p	CLIP-seq
MIRT1317872	hsa-miR-520b	CLIP-seq
MIRT1317873	hsa-miR-520c-3p	CLIP-seq
MIRT1317874	hsa-miR-520d-3p	CLIP-seq
MIRT1317875	hsa-miR-520e	CLIP-seq
MIRT1317876	hsa-miR-520g	CLIP-seq
MIRT1317877	hsa-miR-520h	CLIP-seq
MIRT1317878	hsa-miR-545	CLIP-seq
MIRT1317879	hsa-miR-548l	CLIP-seq
MIRT1317880	hsa-miR-548o	CLIP-seq
MIRT1317881	hsa-miR-548p	CLIP-seq
MIRT1317882	hsa-miR-549	CLIP-seq
MIRT1317883	hsa-miR-573	CLIP-seq
MIRT1317884	hsa-miR-579	CLIP-seq
MIRT1317885	hsa-miR-590-5p	CLIP-seq
MIRT1317886	hsa-miR-593	CLIP-seq
MIRT1317887	hsa-miR-628-5p	CLIP-seq
MIRT1317888	hsa-miR-641	CLIP-seq
MIRT1317889	hsa-miR-888	CLIP-seq
MIRT1317890	hsa-miR-889	CLIP-seq
MIRT1317891	hsa-miR-93	CLIP-seq
MIRT1317892	hsa-miR-96	CLIP-seq
MIRT2094438	hsa-miR-1255a	CLIP-seq
MIRT2094439	hsa-miR-1255b	CLIP-seq
MIRT2094440	hsa-miR-1287	CLIP-seq
MIRT2094441	hsa-miR-1343	CLIP-seq
MIRT2094442	hsa-miR-1915	CLIP-seq
MIRT1317819	hsa-miR-197	CLIP-seq
MIRT2094443	hsa-miR-3126-5p	CLIP-seq
MIRT2094444	hsa-miR-3150a-3p	CLIP-seq
MIRT2094445	hsa-miR-3175	CLIP-seq
MIRT2094446	hsa-miR-335	CLIP-seq
MIRT1317837	hsa-miR-3647-3p	CLIP-seq
MIRT2094447	hsa-miR-3692	CLIP-seq
MIRT2094448	hsa-miR-4419a	CLIP-seq
MIRT2094449	hsa-miR-4446-3p	CLIP-seq
MIRT2094450	hsa-miR-4481	CLIP-seq
MIRT2094451	hsa-miR-4492	CLIP-seq
MIRT2094452	hsa-miR-4498	CLIP-seq
MIRT2094453	hsa-miR-4510	CLIP-seq
MIRT2094454	hsa-miR-4514	CLIP-seq
MIRT2094455	hsa-miR-4685-5p	CLIP-seq
MIRT2094456	hsa-miR-4692	CLIP-seq
MIRT2094457	hsa-miR-4745-5p	CLIP-seq
MIRT2094458	hsa-miR-4755-3p	CLIP-seq
MIRT2094459	hsa-miR-4797-5p	CLIP-seq
MIRT2094460	hsa-miR-491-5p	CLIP-seq
MIRT1317868	hsa-miR-5096	CLIP-seq
MIRT2094461	hsa-miR-640	CLIP-seq
MIRT2094462	hsa-miR-759	CLIP-seq
MIRT2094463	hsa-miR-762	CLIP-seq
MIRT2094464	hsa-miR-939	CLIP-seq
MIRT2094465	hsa-miR-940	CLIP-seq
MIRT1317811	hsa-miR-106a	CLIP-seq
MIRT1317812	hsa-miR-106b	CLIP-seq
MIRT2318941	hsa-miR-1236	CLIP-seq
MIRT2318942	hsa-miR-1254	CLIP-seq
MIRT2318943	hsa-miR-1305	CLIP-seq
MIRT2318944	hsa-miR-150	CLIP-seq
MIRT1317817	hsa-miR-17	CLIP-seq
MIRT2318945	hsa-miR-200b	CLIP-seq
MIRT2318946	hsa-miR-200c	CLIP-seq
MIRT2318947	hsa-miR-204	CLIP-seq
MIRT1317820	hsa-miR-20a	CLIP-seq
MIRT1317821	hsa-miR-20b	CLIP-seq
MIRT2318948	hsa-miR-211	CLIP-seq
MIRT2318949	hsa-miR-3116	CLIP-seq
MIRT2318950	hsa-miR-3123	CLIP-seq
MIRT2318951	hsa-miR-3140-5p	CLIP-seq
MIRT2094444	hsa-miR-3150a-3p	CLIP-seq
MIRT2318952	hsa-miR-3163	CLIP-seq
MIRT2094445	hsa-miR-3175	CLIP-seq
MIRT2094446	hsa-miR-335	CLIP-seq
MIRT2318953	hsa-miR-338-5p	CLIP-seq
MIRT2318954	hsa-miR-3646	CLIP-seq
MIRT2318955	hsa-miR-3713	CLIP-seq
MIRT2318956	hsa-miR-4252	CLIP-seq
MIRT2318957	hsa-miR-4284	CLIP-seq
MIRT2318958	hsa-miR-4287	CLIP-seq
MIRT2318959	hsa-miR-429	CLIP-seq
MIRT1317848	hsa-miR-4428	CLIP-seq
MIRT2318960	hsa-miR-4469	CLIP-seq
MIRT2094450	hsa-miR-4481	CLIP-seq
MIRT2318961	hsa-miR-4659a-3p	CLIP-seq
MIRT2318962	hsa-miR-4659b-3p	CLIP-seq
MIRT2318963	hsa-miR-4685-3p	CLIP-seq
MIRT2318964	hsa-miR-4720-5p	CLIP-seq
MIRT2318965	hsa-miR-4744	CLIP-seq
MIRT2094457	hsa-miR-4745-5p	CLIP-seq
MIRT2318966	hsa-miR-4775	CLIP-seq
MIRT2318967	hsa-miR-4780	CLIP-seq
MIRT2094459	hsa-miR-4797-5p	CLIP-seq
MIRT2318968	hsa-miR-4799-3p	CLIP-seq
MIRT2094460	hsa-miR-491-5p	CLIP-seq
MIRT1317865	hsa-miR-493	CLIP-seq
MIRT2318969	hsa-miR-494	CLIP-seq
MIRT2318970	hsa-miR-496	CLIP-seq
MIRT2318971	hsa-miR-512-5p	CLIP-seq
MIRT1317870	hsa-miR-519d	CLIP-seq
MIRT1317876	hsa-miR-520g	CLIP-seq
MIRT1317877	hsa-miR-520h	CLIP-seq
MIRT1317884	hsa-miR-579	CLIP-seq
MIRT2318972	hsa-miR-623	CLIP-seq
MIRT2094461	hsa-miR-640	CLIP-seq
MIRT2318973	hsa-miR-642a	CLIP-seq
MIRT2318974	hsa-miR-661	CLIP-seq
MIRT2094462	hsa-miR-759	CLIP-seq
MIRT1317891	hsa-miR-93	CLIP-seq
MIRT2094464	hsa-miR-939	CLIP-seq
MIRT2094444	hsa-miR-3150a-3p	CLIP-seq
MIRT2094445	hsa-miR-3175	CLIP-seq
MIRT1317844	hsa-miR-3919	CLIP-seq
MIRT2094450	hsa-miR-4481	CLIP-seq
MIRT2094457	hsa-miR-4745-5p	CLIP-seq
MIRT2393882	hsa-miR-4756-3p	CLIP-seq
MIRT2094459	hsa-miR-4797-5p	CLIP-seq
MIRT2094460	hsa-miR-491-5p	CLIP-seq
MIRT2094462	hsa-miR-759	CLIP-seq
MIRT2094464	hsa-miR-939	CLIP-seq
MIRT1317811	hsa-miR-106a	CLIP-seq
MIRT1317812	hsa-miR-106b	CLIP-seq
MIRT2094440	hsa-miR-1287	CLIP-seq
MIRT2614633	hsa-miR-136	CLIP-seq
MIRT1317817	hsa-miR-17	CLIP-seq
MIRT2614634	hsa-miR-185	CLIP-seq
MIRT2614635	hsa-miR-199a-5p	CLIP-seq
MIRT2614636	hsa-miR-199b-5p	CLIP-seq
MIRT1317820	hsa-miR-20a	CLIP-seq
MIRT1317821	hsa-miR-20b	CLIP-seq
MIRT1317831	hsa-miR-3120-3p	CLIP-seq
MIRT2614637	hsa-miR-3135b	CLIP-seq
MIRT1317832	hsa-miR-3138	CLIP-seq
MIRT2614638	hsa-miR-4306	CLIP-seq
MIRT1317848	hsa-miR-4428	CLIP-seq
MIRT2614639	hsa-miR-4480	CLIP-seq
MIRT1317852	hsa-miR-4520a-3p	CLIP-seq
MIRT2614640	hsa-miR-4644	CLIP-seq
MIRT1317855	hsa-miR-4668-3p	CLIP-seq
MIRT2614641	hsa-miR-4691-5p	CLIP-seq
MIRT2614642	hsa-miR-4738-3p	CLIP-seq
MIRT1317861	hsa-miR-4752	CLIP-seq
MIRT2614643	hsa-miR-4778-3p	CLIP-seq
MIRT2614644	hsa-miR-4786-5p	CLIP-seq
MIRT1317863	hsa-miR-4800-5p	CLIP-seq
MIRT2318969	hsa-miR-494	CLIP-seq
MIRT1317870	hsa-miR-519d	CLIP-seq
MIRT1317876	hsa-miR-520g	CLIP-seq
MIRT1317877	hsa-miR-520h	CLIP-seq
MIRT1317878	hsa-miR-545	CLIP-seq
MIRT1317881	hsa-miR-548p	CLIP-seq
MIRT2614645	hsa-miR-769-5p	CLIP-seq
MIRT1317889	hsa-miR-888	CLIP-seq
MIRT1317891	hsa-miR-93	CLIP-seq
MIRT1317811	hsa-miR-106a	CLIP-seq
MIRT1317812	hsa-miR-106b	CLIP-seq
MIRT2690001	hsa-miR-1207-5p	CLIP-seq
MIRT2318942	hsa-miR-1254	CLIP-seq
MIRT2094440	hsa-miR-1287	CLIP-seq
MIRT1317817	hsa-miR-17	CLIP-seq
MIRT2614634	hsa-miR-185	CLIP-seq
MIRT2094442	hsa-miR-1915	CLIP-seq
MIRT2614635	hsa-miR-199a-5p	CLIP-seq
MIRT2614636	hsa-miR-199b-5p	CLIP-seq
MIRT1317820	hsa-miR-20a	CLIP-seq
MIRT1317821	hsa-miR-20b	CLIP-seq
MIRT2690002	hsa-miR-2861	CLIP-seq
MIRT2318949	hsa-miR-3116	CLIP-seq
MIRT2690003	hsa-miR-3124-3p	CLIP-seq
MIRT2614637	hsa-miR-3135b	CLIP-seq
MIRT2690004	hsa-miR-3652	CLIP-seq
MIRT2690005	hsa-miR-3665	CLIP-seq
MIRT2690006	hsa-miR-3918	CLIP-seq
MIRT2690007	hsa-miR-4292	CLIP-seq
MIRT2614638	hsa-miR-4306	CLIP-seq
MIRT2690008	hsa-miR-4308	CLIP-seq
MIRT1317848	hsa-miR-4428	CLIP-seq
MIRT2690009	hsa-miR-4430	CLIP-seq
MIRT2690010	hsa-miR-4446-5p	CLIP-seq
MIRT2614639	hsa-miR-4480	CLIP-seq
MIRT2690011	hsa-miR-4512	CLIP-seq
MIRT2614640	hsa-miR-4644	CLIP-seq
MIRT2094455	hsa-miR-4685-5p	CLIP-seq
MIRT2690012	hsa-miR-4736	CLIP-seq
MIRT2690013	hsa-miR-4755-5p	CLIP-seq
MIRT2690014	hsa-miR-4757-5p	CLIP-seq
MIRT2690015	hsa-miR-4763-3p	CLIP-seq
MIRT2690016	hsa-miR-4772-3p	CLIP-seq
MIRT2614644	hsa-miR-4786-5p	CLIP-seq
MIRT2318969	hsa-miR-494	CLIP-seq
MIRT1317870	hsa-miR-519d	CLIP-seq
MIRT1317876	hsa-miR-520g	CLIP-seq
MIRT1317877	hsa-miR-520h	CLIP-seq
MIRT2690017	hsa-miR-539	CLIP-seq
MIRT2690018	hsa-miR-657	CLIP-seq
MIRT2690019	hsa-miR-670	CLIP-seq
MIRT2614645	hsa-miR-769-5p	CLIP-seq
MIRT1317891	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS
GO:0002181	Process	Cytoplasmic translation	IDA	25957688
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003735	Function	Structural constituent of ribosome	HDA	15883184
GO:0003735	Function	Structural constituent of ribosome	IBA	21873635
GO:0003735	Function	Structural constituent of ribosome	IMP	28257692
GO:0005515	Function	Protein binding	IPI	20434207, 24725412, 24965446, 32296183
GO:0005654	Component	Nucleoplasm	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IBA	21873635
GO:0005840	Component	Ribosome	NAS	8415000
GO:0006412	Process	Translation	IBA	21873635
GO:0006412	Process	Translation	IC	8706699, 15883184
GO:0006412	Process	Translation	IMP	28257692
GO:0006413	Process	Translational initiation	TAS
GO:0006614	Process	SRP-dependent cotranslational protein targeting to membrane	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0019083	Process	Viral transcription	TAS
GO:0022627	Component	Cytosolic small ribosomal subunit	HDA	15883184
GO:0022627	Component	Cytosolic small ribosomal subunit	IBA	21873635
GO:0022627	Component	Cytosolic small ribosomal subunit	IDA	8706699, 25957688
GO:0034063	Process	Stress granule assembly	IMP	28257692
GO:0042788	Component	Polysomal ribosome	IDA	25957688
GO:1990145	Process	Maintenance of translational fidelity	IMP	28257692

Other IDs

• MIM: 603683
• HGNC: 10410
• e!Ensembl: ENSG00000186468

Protein

• UniProt ID: P62266
• Protein name: Small ribosomal subunit protein uS12 (40S ribosomal protein S23)
• Protein function: Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:28257692). The small ribosomal subunit (SSU) binds messenger RNAs (mRNA
• PDB: 4CXG, 4CXH, 4UG0, 4V6X, 5A2Q, 5AJ0, 5FLX, 5LKS, 5OA3, 5T2C, 5VYC, 6FEC, 6G18, 6G4S, 6G4W, 6G51, 6G53, 6G5H, 6G5I, 6IP5, 6IP6, 6IP8, 6OLE, 6OLF, 6OLG, 6OLI, 6OLZ, 6OM0, 6OM7, 6QZP, 6XA1, 6Y0G, 6Y2L, 6Y57, 6YBW, 6Z6L, 6Z6M, 6Z6N, 6ZLW, 6ZM7, 6ZME, 6ZMI, 6ZMO, 6ZMT, 6ZMW, 6ZN5, 6ZOJ, 6ZOK, 6ZON, 6ZP4, 6ZUO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00164	Ribosom_S12_S23	29 → 142	Ribosomal protein S12/S23	Family

• Sequence:

  MGKCRGLRTARKLRSHRRDQKWHDKQYKKAHLGTALKANPFGGASHAKGIVLEKVGVEAK
  QPNSAIRKCVRVQLIKNGKKITAFVPNDGCLNFIEENDEVLVAGFGRKGHAVGDIPGVRF
  KVVKVANVSLLALYKGKKERPRS

• Sequence length: 143

Pathways

KEGG:

Ribosome
Coronavirus disease - COVID-19

Reactome:

L13a-mediated translational silencing of Ceruloplasmin expression
SRP-dependent cotranslational protein targeting to membrane
Viral mRNA Translation
Major pathway of rRNA processing in the nucleolus and cytosol
Translation initiation complex formation
Formation of a pool of free 40S subunits
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Macinnes syndrome	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY	rs1060505034, rs1060505035	28257692
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital epicanthus	Congenital Epicanthus
Dwarfism	Dwarfism
High palate	Byzanthine arch palate
Motor delay	Clumsiness - motor delay