ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)

Gene

• Entrez ID: 3708
• Gene name: Inositol 1,4,5-trisphosphate receptor type 1
• Gene symbol: ITPR1
• Synonyms: ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
• Chromosome: 3
• Chromosome location: 3p26.1
• Summary: This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41289628	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs41304179	C>T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs61757108	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs61757111	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs121912425	C>T	Pathogenic	Missense variant, coding sequence variant
rs182840163	C>T	Likely-pathogenic, benign, likely-benign	Coding sequence variant, synonymous variant
rs200335594	T>C	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs371988852	C>A,T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs397514535	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397514536	A>G	Pathogenic	Missense variant, coding sequence variant
rs556943368	C>G,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs752281590	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797044955	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs863224882	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869312685	G>A,C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs878853171	C>T	Pathogenic	Stop gained, coding sequence variant
rs878853172	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs878853173	A>T	Pathogenic	Genic downstream transcript variant, intron variant
rs878853174	G>T	Pathogenic	Genic downstream transcript variant, intron variant
rs878853175	AAG>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs878853176	T>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs878853177	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs886039392	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs886058579	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, synonymous variant
rs1057518026	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064796252	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796337	G>C	Pathogenic	Splice acceptor variant
rs1085308010	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1114167316	T>C	Pathogenic	Missense variant, coding sequence variant
rs1131691473	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1131691919	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1249951465	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1322796318	A>G	Pathogenic	Missense variant, coding sequence variant
rs1553654413	CGTA>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553666546	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1553683825	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553689752	->TATA	Pathogenic	Frameshift variant, coding sequence variant
rs1553756062	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553758021	T>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1559603328	GAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1559638068	A>T	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003225	hsa-miR-424-5p	Luciferase reporter assay	20065103
MIRT017604	hsa-miR-335-5p	Microarray	18185580
MIRT019619	hsa-miR-340-5p	Sequencing	20371350
MIRT022001	hsa-miR-128-3p	Sequencing	20371350
MIRT028366	hsa-miR-32-5p	Sequencing	20371350
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT092181	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT092185	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT092184	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT028366	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT092189	hsa-miR-4803	PAR-CLIP	20371350
MIRT475080	hsa-miR-3163	PAR-CLIP	20371350
MIRT092187	hsa-miR-4328	PAR-CLIP	20371350
MIRT019619	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT092181	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT092185	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT092184	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028366	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT092189	hsa-miR-4803	PAR-CLIP	21572407
MIRT475080	hsa-miR-3163	PAR-CLIP	21572407
MIRT092187	hsa-miR-4328	PAR-CLIP	21572407
MIRT019619	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT092181	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT092185	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT092184	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT028366	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT092189	hsa-miR-4803	PAR-CLIP	23592263
MIRT475080	hsa-miR-3163	PAR-CLIP	23592263
MIRT092187	hsa-miR-4328	PAR-CLIP	23592263
MIRT019619	hsa-miR-340-5p	PAR-CLIP	23592263
MIRT092190	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT092194	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT092191	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT092195	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT162697	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT162698	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT092182	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT092186	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028366	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT092181	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT092185	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT092184	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT028366	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT092189	hsa-miR-4803	PAR-CLIP	20371350
MIRT475080	hsa-miR-3163	PAR-CLIP	20371350
MIRT092187	hsa-miR-4328	PAR-CLIP	20371350
MIRT019619	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT092181	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT092185	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT092184	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028366	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT092189	hsa-miR-4803	PAR-CLIP	21572407
MIRT475080	hsa-miR-3163	PAR-CLIP	21572407
MIRT092187	hsa-miR-4328	PAR-CLIP	21572407
MIRT019619	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT092181	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT092185	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT092184	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT028366	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT092189	hsa-miR-4803	PAR-CLIP	23592263
MIRT475080	hsa-miR-3163	PAR-CLIP	23592263
MIRT092187	hsa-miR-4328	PAR-CLIP	23592263
MIRT019619	hsa-miR-340-5p	PAR-CLIP	23592263
MIRT1074979	hsa-miR-1197	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT1074981	hsa-miR-204	CLIP-seq
MIRT1074982	hsa-miR-211	CLIP-seq
MIRT1074983	hsa-miR-3117-3p	CLIP-seq
MIRT1074984	hsa-miR-329	CLIP-seq
MIRT1074985	hsa-miR-3607-5p	CLIP-seq
MIRT1074986	hsa-miR-362-3p	CLIP-seq
MIRT1074987	hsa-miR-376c	CLIP-seq
MIRT1074988	hsa-miR-4287	CLIP-seq
MIRT1074989	hsa-miR-4300	CLIP-seq
MIRT1074990	hsa-miR-4501	CLIP-seq
MIRT1074991	hsa-miR-4504	CLIP-seq
MIRT1074992	hsa-miR-4685-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1074996	hsa-miR-542-3p	CLIP-seq
MIRT1074997	hsa-miR-651	CLIP-seq
MIRT1074998	hsa-miR-920	CLIP-seq
MIRT1074999	hsa-miR-103a	CLIP-seq
MIRT1075000	hsa-miR-107	CLIP-seq
MIRT1075001	hsa-miR-125a-3p	CLIP-seq
MIRT1075002	hsa-miR-1262	CLIP-seq
MIRT1075003	hsa-miR-1271	CLIP-seq
MIRT1075004	hsa-miR-1297	CLIP-seq
MIRT1075005	hsa-miR-130a	CLIP-seq
MIRT1075006	hsa-miR-130b	CLIP-seq
MIRT1075007	hsa-miR-15a	CLIP-seq
MIRT1075008	hsa-miR-15b	CLIP-seq
MIRT1075009	hsa-miR-16	CLIP-seq
MIRT1075010	hsa-miR-182	CLIP-seq
MIRT1075011	hsa-miR-195	CLIP-seq
MIRT1075012	hsa-miR-19a	CLIP-seq
MIRT1075013	hsa-miR-19b	CLIP-seq
MIRT1075014	hsa-miR-203	CLIP-seq
MIRT1075015	hsa-miR-224	CLIP-seq
MIRT1075016	hsa-miR-26a	CLIP-seq
MIRT1075017	hsa-miR-26b	CLIP-seq
MIRT1075018	hsa-miR-301a	CLIP-seq
MIRT1075019	hsa-miR-301b	CLIP-seq
MIRT1075020	hsa-miR-3646	CLIP-seq
MIRT1075021	hsa-miR-3666	CLIP-seq
MIRT1075022	hsa-miR-3934	CLIP-seq
MIRT1075023	hsa-miR-424	CLIP-seq
MIRT1075024	hsa-miR-4274	CLIP-seq
MIRT1075025	hsa-miR-4295	CLIP-seq
MIRT1075026	hsa-miR-4465	CLIP-seq
MIRT1075027	hsa-miR-4519	CLIP-seq
MIRT1075028	hsa-miR-454	CLIP-seq
MIRT1075029	hsa-miR-4662a-5p	CLIP-seq
MIRT1075030	hsa-miR-4666-5p	CLIP-seq
MIRT1075031	hsa-miR-4694-3p	CLIP-seq
MIRT1075032	hsa-miR-4701-3p	CLIP-seq
MIRT1075033	hsa-miR-4719	CLIP-seq
MIRT1075034	hsa-miR-488	CLIP-seq
MIRT1075035	hsa-miR-497	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1075036	hsa-miR-522	CLIP-seq
MIRT1075037	hsa-miR-579	CLIP-seq
MIRT1075038	hsa-miR-764	CLIP-seq
MIRT1075039	hsa-miR-885-3p	CLIP-seq
MIRT1075040	hsa-miR-96	CLIP-seq
MIRT1075001	hsa-miR-125a-3p	CLIP-seq
MIRT1075004	hsa-miR-1297	CLIP-seq
MIRT1075005	hsa-miR-130a	CLIP-seq
MIRT1075006	hsa-miR-130b	CLIP-seq
MIRT1075012	hsa-miR-19a	CLIP-seq
MIRT1075013	hsa-miR-19b	CLIP-seq
MIRT1075016	hsa-miR-26a	CLIP-seq
MIRT1075017	hsa-miR-26b	CLIP-seq
MIRT1075018	hsa-miR-301a	CLIP-seq
MIRT1075019	hsa-miR-301b	CLIP-seq
MIRT2018594	hsa-miR-3160-5p	CLIP-seq
MIRT1075021	hsa-miR-3666	CLIP-seq
MIRT2018595	hsa-miR-3667-3p	CLIP-seq
MIRT1075022	hsa-miR-3934	CLIP-seq
MIRT1075025	hsa-miR-4295	CLIP-seq
MIRT1075026	hsa-miR-4465	CLIP-seq
MIRT1075028	hsa-miR-454	CLIP-seq
MIRT2018596	hsa-miR-4540	CLIP-seq
MIRT2018597	hsa-miR-4652-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1075038	hsa-miR-764	CLIP-seq
MIRT2250423	hsa-miR-4738-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1074999	hsa-miR-103a	CLIP-seq
MIRT1075000	hsa-miR-107	CLIP-seq
MIRT2553999	hsa-miR-1185	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT1075003	hsa-miR-1271	CLIP-seq
MIRT1075007	hsa-miR-15a	CLIP-seq
MIRT1075008	hsa-miR-15b	CLIP-seq
MIRT1075009	hsa-miR-16	CLIP-seq
MIRT1075010	hsa-miR-182	CLIP-seq
MIRT1075011	hsa-miR-195	CLIP-seq
MIRT2554000	hsa-miR-3679-5p	CLIP-seq
MIRT2554001	hsa-miR-3680	CLIP-seq
MIRT1075023	hsa-miR-424	CLIP-seq
MIRT2554002	hsa-miR-4252	CLIP-seq
MIRT1075030	hsa-miR-4666-5p	CLIP-seq
MIRT2554003	hsa-miR-4729	CLIP-seq
MIRT2554004	hsa-miR-4733-3p	CLIP-seq
MIRT2250423	hsa-miR-4738-3p	CLIP-seq
MIRT2554005	hsa-miR-4775	CLIP-seq
MIRT2554006	hsa-miR-4802-3p	CLIP-seq
MIRT1075034	hsa-miR-488	CLIP-seq
MIRT1075035	hsa-miR-497	CLIP-seq
MIRT2554007	hsa-miR-556-3p	CLIP-seq
MIRT1075037	hsa-miR-579	CLIP-seq
MIRT2554008	hsa-miR-590-3p	CLIP-seq
MIRT1075039	hsa-miR-885-3p	CLIP-seq
MIRT2554009	hsa-miR-889	CLIP-seq
MIRT1075040	hsa-miR-96	CLIP-seq
MIRT2553999	hsa-miR-1185	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT2683023	hsa-miR-1246	CLIP-seq
MIRT2683024	hsa-miR-1279	CLIP-seq
MIRT2683025	hsa-miR-153	CLIP-seq
MIRT1074981	hsa-miR-204	CLIP-seq
MIRT1074982	hsa-miR-211	CLIP-seq
MIRT2683026	hsa-miR-3117-5p	CLIP-seq
MIRT2683027	hsa-miR-3140-5p	CLIP-seq
MIRT2683028	hsa-miR-3187-3p	CLIP-seq
MIRT2554000	hsa-miR-3679-5p	CLIP-seq
MIRT2683029	hsa-miR-3942-3p	CLIP-seq
MIRT2683030	hsa-miR-412	CLIP-seq
MIRT2554002	hsa-miR-4252	CLIP-seq
MIRT2683031	hsa-miR-4435	CLIP-seq
MIRT2683032	hsa-miR-4457	CLIP-seq
MIRT2683033	hsa-miR-4474-3p	CLIP-seq
MIRT2683034	hsa-miR-4528	CLIP-seq
MIRT2683035	hsa-miR-4530	CLIP-seq
MIRT2683036	hsa-miR-4698	CLIP-seq
MIRT2683037	hsa-miR-4701-5p	CLIP-seq
MIRT2554003	hsa-miR-4729	CLIP-seq
MIRT2554004	hsa-miR-4733-3p	CLIP-seq
MIRT2683038	hsa-miR-4755-5p	CLIP-seq
MIRT2683039	hsa-miR-4760-3p	CLIP-seq
MIRT2683040	hsa-miR-4764-5p	CLIP-seq
MIRT2683041	hsa-miR-4778-3p	CLIP-seq
MIRT2683042	hsa-miR-509-3p	CLIP-seq
MIRT2683043	hsa-miR-513b	CLIP-seq
MIRT2683044	hsa-miR-548aa	CLIP-seq
MIRT2683045	hsa-miR-548s	CLIP-seq
MIRT2683046	hsa-miR-576-5p	CLIP-seq
MIRT2683047	hsa-miR-586	CLIP-seq
MIRT2683048	hsa-miR-588	CLIP-seq
MIRT2683049	hsa-miR-617	CLIP-seq
MIRT2683050	hsa-miR-623	CLIP-seq
MIRT2683051	hsa-miR-654-3p	CLIP-seq
MIRT2683052	hsa-miR-664	CLIP-seq
MIRT2683053	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	19120137
GO:0005220	Function	Inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IBA	21873635
GO:0005220	Function	Inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISS
GO:0005220	Function	Inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	TAS	8648241
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16793548, 18250332, 19220705, 20010695, 22045699, 23884412, 24947355, 27995898
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005783	Component	Endoplasmic reticulum	NAS	8648241
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005955	Component	Calcineurin complex	IEA
GO:0006816	Process	Calcium ion transport	NAS	7852357
GO:0007165	Process	Signal transduction	NAS	8648241
GO:0009791	Process	Post-embryonic development	IEA
GO:0010506	Process	Regulation of autophagy	TAS	22770472
GO:0014069	Component	Postsynaptic density	IEA
GO:0015085	Function	Calcium ion transmembrane transporter activity	TAS	7500840
GO:0015278	Function	Calcium-release channel activity	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IBA	21873635
GO:0019855	Function	Calcium channel inhibitor activity	IDA	16793548
GO:0030168	Process	Platelet activation	TAS
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IBA	21873635
GO:0030667	Component	Secretory granule membrane	IBA	21873635
GO:0031088	Component	Platelet dense granule membrane	IDA	10828023
GO:0031094	Component	Platelet dense tubular network	IDA	10828023
GO:0031095	Component	Platelet dense tubular network membrane	TAS
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IEA
GO:0035091	Function	Phosphatidylinositol binding	IBA	21873635
GO:0035091	Function	Phosphatidylinositol binding	ISS
GO:0042045	Process	Epithelial fluid transport	IEA
GO:0048016	Process	Inositol phosphate-mediated signaling	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050796	Process	Regulation of insulin secretion	TAS
GO:0050849	Process	Negative regulation of calcium-mediated signaling	IDA	16793548
GO:0050882	Process	Voluntary musculoskeletal movement	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA	21873635
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IBA	21873635
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098695	Function	Inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels	IEA
GO:0099566	Process	Regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:1903779	Process	Regulation of cardiac conduction	TAS

Other IDs

• MIM: 147265
• HGNC: 6180
• e!Ensembl: ENSG00000150995

Protein

• UniProt ID: Q14643
• Protein name: Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 (IP3 receptor isoform 1) (IP3R 1) (InsP3R1) (Inositol 1,4,5 trisphosphate receptor) (Inositol 1,4,5-trisphosphate receptor type 1) (Type 1 inositol 1,4,5-trisphosphate receptor) (Type 1 InsP3 recept
• Protein function: Inositol 1,4,5-trisphosphate-gated calcium channel that, upon inositol 1,4,5-trisphosphate binding, mediates calcium release from the endoplasmic reticulum (ER) (PubMed:10620513, PubMed:27108797). Undergoes conformational changes upon ligand bin
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08709	Ins145_P3_rec	4 → 229	Inositol 1,4,5-trisphosphate/ryanodine receptor	Domain
  PF02815	MIR	232 → 433	MIR domain	Domain
  PF01365	RYDR_ITPR	474 → 670	RIH domain	Family
  PF01365	RYDR_ITPR	1194 → 1354	RIH domain	Family
  PF08454	RIH_assoc	1968 → 2078	RyR and IP3R Homology associated	Family
  PF00520	Ion_trans	2320 → 2609	Ion transport protein	Family

• Sequence:

  MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKL
  CPMNRYSAQKQFWKAAKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNV
  IQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQPFYKLRSIGDSVVIGD
  KVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVV
  RLFHAEQEKFLTCDEHRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWN
  SLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLRNAQEKMVYSLVSVPE
  GNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGT
  SPVKEDKEAFAIVPVSPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDL
  VYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQAPFTDCGDGPMLRLEE
  LGDQRHAPFRHICRLCYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLH
  NNRKLLEKHITAAEIDTFVSLVRKNREPRFLDYLSDLCVSMNKSIPVTQELICKAVLNPT
  NADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSNKEIRSKSVRELAQDA
  KEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRA
  SFCRLMLHMHVDRDPQEQVTPVKYARLWSEIPSEIAIDDYDSSGASKDEIKERFAQTMEF
  VEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDLLRLTKILLAILDCVH
  VTTIFPISKMAKGEENKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAA
  PEGNVKQAEPEKEDIMVMDTKLKIIEILQFILNVRLDYRISCLLCIFKREFDESNSQTSE
  TSSGNSSQEGPSNVPGALDFEHIEEQAEGIFGGSEENTPLDLDDHGGRTFLRVLLHLTMH
  DYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSE
  LWVYKGQGPDETMDGASGENEHKKTEEGNNKPQKHESTSSYNYRVVKEILIRLSKLCVQE
  SASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQ
  NQALLHKHINLFLNPGILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIK
  FLQTIVKAEGKFIKKCQDMVMAELVNSGEDVLVFYNDRASFQTLIQMMRSERDRMDENSP
  LMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYINFLNHCY
  VDTEVEMKEIYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFF
  SSPFSDQSTTLQTRQPVFVQLLQGVFRVYHCNWLMPSQKASVESCIRVLSDVAKSRAIAI
  PVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQDIVSAL
  EDRLRPLVQAELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKL
  CIKVLQTLREMMTKDRGYGEKLISIDELDNAELPPAPDSENATEELEPSPPLRQLEDHKR
  GEALRQVLVNRYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSL
  AEVQCHLDKEGASNLVIDLIMNASSDRVFHESILLAIALLEGGNTTIQHSFFCRLTEDKK
  SEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEV
  RDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRF
  LQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVAL
  INQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNA
  SKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNV
  GHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPV
  PSICEFLTKESKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARN
  MSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGLLWTAMLISLAIVIALPKPHG
  IRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEF
  LYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILV
  YLFSIVGYLFFKDDFILEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPRE
  ELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSKEEPLFAARVIYDLL
  FFFMVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHI
  KEEHNMWHYLCFIVLVKVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQ
  NELRNLQEKLESTMKLVTNLSGQLSELKDQMTEQRKQKQRIGLLGHPPHMNVNPQQPA

• Sequence length: 2758

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
Phosphatidylinositol signaling system
Oocyte meiosis
Autophagy - animal
Apoptosis
Cellular senescence
Vascular smooth muscle contraction
Apelin signaling pathway
Osteoclast differentiation
Gap junction
Platelet activation
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
Circadian entrainment
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
Dopaminergic synapse
Long-term depression
Inflammatory mediator regulation of TRP channels
GnRH signaling pathway
Estrogen signaling pathway
Thyroid hormone synthesis
Oxytocin signaling pathway
Glucagon signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
GnRH secretion
Cushing syndrome
Growth hormone synthesis, secretion and action
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Alzheimer disease
Parkinson disease
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Shigellosis
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Proteoglycans in cancer
Lipid and atherosclerosis

Reactome:

Effects of PIP2 hydrolysis
Elevation of cytosolic Ca2+ levels
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
cGMP effects
Ion homeostasis
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Aniridia	Aniridia	rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591
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	23535729
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	29059683, 23535729, 25751625
Cerebellar vermis agenesis	Familial aplasia of the vermis	rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003, rs199469707, rs11230683, rs386834044, rs386834149, rs267604575, rs587777079, rs587777653, rs587783013, rs778149316, rs786204135, rs386834043, rs786204189, rs786204788, rs794729195, rs534542684, rs797045223, rs863224523, rs201502401, rs374144275, rs863225135, rs863225139, rs372659908, rs863225136, rs772989270, rs863225147, rs541041911, rs863225137, rs371637724, rs777668842, rs863225143, rs753085250, rs753874898, rs863225138, rs863225199, rs775518991, rs752300607, rs863225202, rs863225200, rs863225198, rs754637179, rs755459875, rs863225151, rs863225222, rs863225221, rs863225220, rs201010803, rs863225214, rs369488112, rs863225207, rs863225204, rs863225210, rs754279998, rs863225208, rs863225209, rs863225206, rs1555600644, rs863225205, rs750436680, rs863225150, rs757863670, rs864309712, rs878855006, rs1114167302, rs768663992, rs760952407, rs1057517498, rs1057517528, rs767384710, rs756789619, rs1057520085, rs1057520162, rs142759730, rs372770167, rs759799287, rs753432312, rs780265931, rs1114167448, rs1114167449, rs779450345, rs1276908141, rs1554350503, rs1554208431, rs780910490, rs767018622, rs565629362, rs905262279, rs1554214237, rs771866500, rs754404879, rs1554972547, rs1560002959, rs1564430716, rs756276537, rs1431917892, rs1565088283, rs1277577195, rs1562753388, rs772289223, rs777215595, rs747322175, rs751823180, rs751477523, rs187245292, rs1574587553, rs762334514, rs747514855, rs1318058212, rs1583179845, rs1589150410, rs1588830568, rs1787150198, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs748438350, rs1336317768, rs780069818, rs771226563, rs1784887448, rs781198326
Developmental delay	Global developmental delay, Gross motor development 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
Gillespie syndrome	Gillespie syndrome	rs878853171, rs878853172, rs878853173, rs878853174, rs878853175, rs878853176, rs878853177, rs752281590, rs886039392, rs1553654413, rs1553689752, rs1553758021, rs1559638068	27108797, 29925855, 22986007, 27108798, 29663667, 27062503, 29169895
Mental retardation	Severe intellectual disability, Moderate intellectual disability, 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	29663667
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	22986007, 21367767, 12611586, 23495097, 14981189, 17590087, 27108798, 17030759, 25574826, 28488678, 25794864, 26770814, 18579805, 11445634
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17199135
Spinocerebellar ataxia	SPINOCEREBELLAR ATAXIA 15, SPINOCEREBELLAR ATAXIA 29, Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 29	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	27108797, 17590087, 27062503, 18579805, 22986007, 26770814, 22986007, 26257172, 27062503, 29925855, 27108797, 28659154

Unknown
Disease name	Disease term	dbSNP ID	References
Aniridia, cerebellar ataxia, and mental retardation	Aniridia-cerebellar ataxia-intellectual disability syndrome
Anomalous pulmonary artery	Anomalous pulmonary artery
Bipolar disorder	Bipolar Disorder		8115665, 16691292
Cerebellar atrophy	Cerebellar atrophy
Cerebellar hypoplasia	Cerebellar Hypoplasia
Dandy-walker syndrome	Dandy-Walker Syndrome
Diabetic nephropathy	Diabetic Nephropathy		26305897
Dysarthria	Dysarthria
Hypoplasia of iris	Hypoplasia of iris
Impaired cognition	Impaired cognition
Motor delay	Clumsiness - motor delay
Movement disorders	Movement Disorders		18579805, 27108798, 26770814, 25574826, 21367767, 22986007, 14981189, 28488678, 17590087, 12611586, 11445634, 17030759, 23495097, 25794864
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Prostatic neoplasms	Prostatic Neoplasms		17199135
Uterine fibroids	Uterine Fibroids		30194396
Plexiform leiomyoma	Plexiform leiomyoma		30194396