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ORAI1 (ORAI calcium release-activated calcium modulator 1)

Gene

84876

ORAI calcium release-activated calcium modulator 1

ORAI1

CRACM1, IMD9, ORAT1, TAM2, TMEM142A

12q24.31

The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a caus

Show/Hide all(10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203993	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777528	C>T	Pathogenic	Coding sequence variant, missense variant
rs782753385	T>C	Pathogenic	Missense variant, coding sequence variant
rs786204796	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs786204797	C>T	Pathogenic	Missense variant, coding sequence variant
rs786205890	C>A	Pathogenic	Missense variant, coding sequence variant
rs878853261	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555322558	->CCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC	Pathogenic	Frameshift variant, coding sequence variant
rs1555322610	C>G	Pathogenic	Missense variant, coding sequence variant
rs1594212582	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(272)

miRTarBase ID	miRNA	Experiments	Reference
MIRT616661	hsa-miR-3133	HITS-CLIP	23824327
MIRT616660	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT616659	hsa-miR-548u	HITS-CLIP	23824327
MIRT616658	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT616657	hsa-miR-8087	HITS-CLIP	23824327
MIRT616656	hsa-miR-4744	HITS-CLIP	23824327
MIRT616655	hsa-miR-4509	HITS-CLIP	23824327
MIRT616654	hsa-miR-6505-3p	HITS-CLIP	23824327
MIRT616653	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT616652	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT133316	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT133313	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT133316	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT133312	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT133317	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT133314	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT133321	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT133313	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT133321	hsa-miR-519d-3p	qRT-PCR	26792278
MIRT616661	hsa-miR-3133	HITS-CLIP	23824327
MIRT616660	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT616659	hsa-miR-548u	HITS-CLIP	23824327
MIRT616658	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT616657	hsa-miR-8087	HITS-CLIP	23824327
MIRT616656	hsa-miR-4744	HITS-CLIP	23824327
MIRT616655	hsa-miR-4509	HITS-CLIP	23824327
MIRT616654	hsa-miR-6505-3p	HITS-CLIP	23824327
MIRT616653	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT616652	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1204852	hsa-miR-106a	CLIP-seq
MIRT1204853	hsa-miR-106b	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204856	hsa-miR-1287	CLIP-seq
MIRT1204857	hsa-miR-1321	CLIP-seq
MIRT1204858	hsa-miR-139-3p	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204861	hsa-miR-17	CLIP-seq
MIRT1204862	hsa-miR-184	CLIP-seq
MIRT1204863	hsa-miR-20a	CLIP-seq
MIRT1204864	hsa-miR-20b	CLIP-seq
MIRT1204865	hsa-miR-298	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204867	hsa-miR-3135b	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204869	hsa-miR-3163	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204871	hsa-miR-329	CLIP-seq
MIRT1204872	hsa-miR-340	CLIP-seq
MIRT1204873	hsa-miR-3612	CLIP-seq
MIRT1204874	hsa-miR-362-3p	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204876	hsa-miR-3672	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204878	hsa-miR-377	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204881	hsa-miR-3941	CLIP-seq
MIRT1204882	hsa-miR-3973	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204885	hsa-miR-4419a	CLIP-seq
MIRT1204886	hsa-miR-4436a	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204889	hsa-miR-4510	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204892	hsa-miR-4643	CLIP-seq
MIRT1204893	hsa-miR-4668-3p	CLIP-seq
MIRT1204894	hsa-miR-4695-5p	CLIP-seq
MIRT1204895	hsa-miR-4700-3p	CLIP-seq
MIRT1204896	hsa-miR-4726-3p	CLIP-seq
MIRT1204897	hsa-miR-4728-5p	CLIP-seq
MIRT1204898	hsa-miR-4739	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204900	hsa-miR-4756-5p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204902	hsa-miR-4768-5p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204906	hsa-miR-4804-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204908	hsa-miR-513a-3p	CLIP-seq
MIRT1204909	hsa-miR-519a	CLIP-seq
MIRT1204910	hsa-miR-519b-3p	CLIP-seq
MIRT1204911	hsa-miR-519c-3p	CLIP-seq
MIRT1204912	hsa-miR-519d	CLIP-seq
MIRT1204913	hsa-miR-520g	CLIP-seq
MIRT1204914	hsa-miR-520h	CLIP-seq
MIRT1204915	hsa-miR-548c-3p	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204917	hsa-miR-592	CLIP-seq
MIRT1204918	hsa-miR-597	CLIP-seq
MIRT1204919	hsa-miR-603	CLIP-seq
MIRT1204920	hsa-miR-607	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204924	hsa-miR-650	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204929	hsa-miR-93	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204886	hsa-miR-4436a	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204856	hsa-miR-1287	CLIP-seq
MIRT1204857	hsa-miR-1321	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204862	hsa-miR-184	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204867	hsa-miR-3135b	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204869	hsa-miR-3163	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204871	hsa-miR-329	CLIP-seq
MIRT1204872	hsa-miR-340	CLIP-seq
MIRT1204873	hsa-miR-3612	CLIP-seq
MIRT1204874	hsa-miR-362-3p	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204876	hsa-miR-3672	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204881	hsa-miR-3941	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204885	hsa-miR-4419a	CLIP-seq
MIRT1204886	hsa-miR-4436a	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204889	hsa-miR-4510	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204894	hsa-miR-4695-5p	CLIP-seq
MIRT1204895	hsa-miR-4700-3p	CLIP-seq
MIRT1204896	hsa-miR-4726-3p	CLIP-seq
MIRT1204897	hsa-miR-4728-5p	CLIP-seq
MIRT1204898	hsa-miR-4739	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204900	hsa-miR-4756-5p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204906	hsa-miR-4804-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204919	hsa-miR-603	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204924	hsa-miR-650	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT2391917	hsa-miR-3202	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002115	Process	Store-operated calcium entry	IBA	21873635
GO:0002115	Process	Store-operated calcium entry	IDA	28219928
GO:0002250	Process	Adaptive immune response	IEA
GO:0005262	Function	Calcium channel activity	IDA	31009446
GO:0005515	Function	Protein binding	IPI	17360584, 17905723, 19249086, 19706554, 19887627, 20418871, 20887894, 21408196, 21427704, 21876174, 22451904, 22464749, 22494970, 22586105, 23307288, 24954132, 24996186, 27185316, 28219928, 30481768
GO:0005516	Function	Calmodulin binding	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	19171672, 27185316
GO:0005887	Component	Integral component of plasma membrane	IDA	16645049, 28219928
GO:0015279	Function	Store-operated calcium channel activity	IBA	21873635
GO:0015279	Function	Store-operated calcium channel activity	IDA	16645049, 16733527, 16766533, 16807233, 23307288, 28219928
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0034704	Component	Calcium channel complex	ISS	31009446
GO:0042802	Function	Identical protein binding	IPI	18757751, 19249086, 20018736, 20194792, 24996186
GO:0044853	Component	Plasma membrane raft	IDA	19171672
GO:0045121	Component	Membrane raft	IDA	22494970
GO:0045762	Process	Positive regulation of adenylate cyclase activity	IDA	19171672
GO:0051924	Process	Regulation of calcium ion transport	IMP	16921383
GO:0051928	Process	Positive regulation of calcium ion transport	IDA	16645049, 16733527, 16766533, 16807233
GO:0061180	Process	Mammary gland epithelium development	IEA
GO:0070509	Process	Calcium ion import	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IDA	31009446

MIM	HGNC	e!Ensembl
610277	25896	ENSG00000276045

Protein

UniProt ID

Q96D31

Protein name

Calcium release-activated calcium channel protein 1 (Protein orai-1) (Transmembrane protein 142A)

Protein function

Pore-forming subunit of two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)-selective (ARC) channels (Probable) (PubMed:16645049, PubMed:16733527,

PDB

2MAK , 4EHQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07856	Orai-1	71 → 267	Mediator of CRAC channel activity	Family

Sequence

MHPEPAPPPSRSSPELPPSGGSTTSGSRRSRRRSGDGEPPGAPPPPPSAVTYPDWIGQSY
SEVMSLNEHSMQALSWRKLYLSRAKLKASSRTSALLSGFAMVAMVEVQLDADHDYPPGLL
IAFSACTTVLVAVHLFALMISTCILPNIEAVSNVHNLNSVKESPHERMHRHIELAWAFST
VIGTLLFLAEVVLLCWVKFLPLKKQPGQPRPTSKPPASGAAANVSTSGITPGQAAAIAST
TIMVPFGLIFIVFAVHFYRSLVSHKTDRQFQELNELAEFARLQDQLDHRGDHPLTPGSHY
A

Sequence length

301

Interactions

View interactions

	KEGG
	Calcium signaling pathway cAMP signaling pathway Platelet activation Renin secretion Aldosterone synthesis and secretion Cortisol synthesis and secretion Cushing syndrome Primary immunodeficiency

Associated diseases

Show/Hide Causal Diseases (10)

Causal
Disease name	Disease term	dbSNP ID	References
Amelogenesis imperfecta	Amelogenesis Imperfecta	rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489, rs104894733, rs104894734, rs104894736, rs387906490, rs387906491, rs104894737, rs104894738, rs144411158, rs587776911, rs587776912, rs587776913, rs587776914, rs387907215, rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455, rs587777515, rs587777516, rs587777530, rs139620139, rs587777531, rs587777535, rs587777536, rs587777537, rs606231462, rs1553275034, rs869320671, rs786201004, rs140015315, rs730882118, rs730880297, rs730880298, rs786204825, rs786204826, rs1555409827, rs1057517671, rs1057517672, rs556734208, rs146238585, rs202073531, rs1057519277, rs767907487, rs779823931, rs1060499539, rs1085307111, rs546603773, rs1553275070, rs1553275195, rs752102959, rs1554623490, rs1553888384, rs770804941, rs1553887511, rs557128345, rs1568724130, rs199527325, rs1603038146, rs773117913, rs1560973571, rs1560782372, rs1560980659, rs1560973467, rs772929908, rs762816338, rs1565222166, rs1595312054, rs1866200282, rs2086254952
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Centronuclear myopathy	Centronuclear myopathy, Autosomal Recessive Centronuclear Myopathy, Autosomal Dominant Myotubular Myopathy	rs80356529, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs132630304, rs587783791, rs397518445, rs132630306, rs122458143, rs587783594, rs587783595, rs587783597, rs587783598, rs587783832, rs587783838, rs587783841, rs587783771, rs587783772, rs587783781, rs574660186, rs794729338, rs587783752, rs878854372, rs926741242, rs1293675104, rs768407867, rs773598203, rs1555715869, rs781933660, rs1332371891, rs756870293, rs1568454672, rs1600843056, rs866050664, rs2093158866, rs776252106, rs756847750, rs2070649864
Congenital myopathy with fiber type disproportion	Congenital Fiber Type Disproportion	rs121908184, rs121908188, rs121964853, rs121964854, rs121909529, rs121909531, rs367543058, rs118192117, rs143849895, rs367543055, rs367543049, rs367543048, rs118192178, rs193922810, rs587783772, rs2754158, rs727503263, rs797045950, rs886041686, rs1557813850, rs1057518940, rs1060505018, rs1566521710, rs1558081664, rs778603129, rs1475149579
Ectodermal dysplasia	Ectodermal Dysplasia	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157
Hypertension	Hypertensive disease	rs13306026, rs13333226	19897708
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Myopathy	Myopathy, Myopathy, Centronuclear, Autosomal Dominant, MYOPATHY, TUBULAR AGGREGATE, 1, MYOPATHY, TUBULAR AGGREGATE, 2, Myopathy, Centronuclear, 1	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338	25227914, 28058752, 24591628
Severe combined immunodeficiency disease	Combined immunodeficiency, Combined immunodeficiency due to ORAI1 deficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	20004786
Stormorken syndrome	Stormorken Syndrome	rs483352867, rs527236030	24591628

Show/Hide Unknown Diseases (13)

Unknown
Disease name	Disease term	dbSNP ID	References
Aphthous ulcer	Recurrent aphthous ulcer
Centronuclear myopathy, x-linked	X-linked centronuclear myopathy
Asplenia	Congenital absence of spleen
Congenital structural myopathy	Congenital Structural Myopathy
Dwarfism	Dwarfism
Immune dysfunction with t-cell inactivation	Immune dysfunction with T-cell inactivation due to calcium entry defect 1		16147976, 16582901, 20004786
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	27777418
Miosis disorder	Miosis disorder
Speech disorders	Speech Disorders
Stomatitis	Stomatitis
Stormorken-sjaastad-langslet syndrome	Stormorken-Sjaastad-Langslet syndrome
Tubular aggregate myopathy	Tubular Aggregate Myopathy		24591628

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