TNFRSF1A (TNF receptor superfamily member 1A)

Gene

• Entrez ID: 7132
• Gene name: TNF receptor superfamily member 1A
• Gene symbol: TNFRSF1A
• Synonyms: CD120a, FPF, TBP1, TNF-R, TNF-R-I, TNF-R55, TNFAR, TNFR1, TNFR55, TNFR60, p55, p55-R, p60
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Bindin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800693	T>C	Benign, risk-factor, likely-benign	Intron variant
rs4149584	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs34751757	G>A,T	Not-provided, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs104895217	A>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs104895218	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs104895219	G>A,T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895220	C>A,T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895221	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895222	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895223	C>A,G,T	Pathogenic, not-provided, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs104895224	C>G,T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895225	A>C	Pathogenic, likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs104895228	A>C,G,T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895232	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895245	A>C,G	Likely-pathogenic, not-provided, uncertain-significance	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895247	A>G,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs104895253	A>G	Likely-pathogenic, not-provided	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs104895271	A>C,G	Likely-benign, pathogenic, likely-pathogenic	Synonymous variant, non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs104895276	G>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs200900510	C>T	Benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs756455040	G>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs876661014	G>C	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs876661031	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs886039866	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs1555108112	C>G,T	Likely-pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1592047560	->TGTGTCTTGCAC	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, inframe insertion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051697	hsa-let-7e-5p	CLASH	23622248
MIRT1443001	hsa-miR-1197	CLIP-seq
MIRT1443002	hsa-miR-1266	CLIP-seq
MIRT1443003	hsa-miR-194	CLIP-seq
MIRT1443004	hsa-miR-1973	CLIP-seq
MIRT1443005	hsa-miR-198	CLIP-seq
MIRT1443006	hsa-miR-218	CLIP-seq
MIRT1443007	hsa-miR-24	CLIP-seq
MIRT1443008	hsa-miR-2467-3p	CLIP-seq
MIRT1443009	hsa-miR-296-5p	CLIP-seq
MIRT1443010	hsa-miR-297	CLIP-seq
MIRT1443011	hsa-miR-29a	CLIP-seq
MIRT1443012	hsa-miR-29b	CLIP-seq
MIRT1443013	hsa-miR-29c	CLIP-seq
MIRT1443014	hsa-miR-3117-3p	CLIP-seq
MIRT1443015	hsa-miR-3189-5p	CLIP-seq
MIRT1443016	hsa-miR-3591-5p	CLIP-seq
MIRT1443017	hsa-miR-3616-3p	CLIP-seq
MIRT1443018	hsa-miR-4267	CLIP-seq
MIRT1443019	hsa-miR-4270	CLIP-seq
MIRT1443020	hsa-miR-4280	CLIP-seq
MIRT1443021	hsa-miR-4433	CLIP-seq
MIRT1443022	hsa-miR-4441	CLIP-seq
MIRT1443023	hsa-miR-4480	CLIP-seq
MIRT1443024	hsa-miR-4493	CLIP-seq
MIRT1443025	hsa-miR-4514	CLIP-seq
MIRT1443026	hsa-miR-4518	CLIP-seq
MIRT1443027	hsa-miR-455-5p	CLIP-seq
MIRT1443028	hsa-miR-4645-5p	CLIP-seq
MIRT1443029	hsa-miR-4673	CLIP-seq
MIRT1443030	hsa-miR-4692	CLIP-seq
MIRT1443031	hsa-miR-491-3p	CLIP-seq
MIRT1443032	hsa-miR-501-3p	CLIP-seq
MIRT1443033	hsa-miR-502-3p	CLIP-seq
MIRT1443034	hsa-miR-567	CLIP-seq
MIRT1443035	hsa-miR-590-3p	CLIP-seq
MIRT1443036	hsa-miR-636	CLIP-seq
MIRT1443037	hsa-miR-766	CLIP-seq
MIRT1443001	hsa-miR-1197	CLIP-seq
MIRT2132578	hsa-miR-1205	CLIP-seq
MIRT2132579	hsa-miR-1225-3p	CLIP-seq
MIRT2132580	hsa-miR-1233	CLIP-seq
MIRT2132581	hsa-miR-1286	CLIP-seq
MIRT1443004	hsa-miR-1973	CLIP-seq
MIRT1443010	hsa-miR-297	CLIP-seq
MIRT1443014	hsa-miR-3117-3p	CLIP-seq
MIRT2132582	hsa-miR-3155	CLIP-seq
MIRT2132583	hsa-miR-3155b	CLIP-seq
MIRT2132584	hsa-miR-3180-5p	CLIP-seq
MIRT2132585	hsa-miR-3183	CLIP-seq
MIRT1443015	hsa-miR-3189-5p	CLIP-seq
MIRT1443016	hsa-miR-3591-5p	CLIP-seq
MIRT2132586	hsa-miR-4251	CLIP-seq
MIRT2132587	hsa-miR-4253	CLIP-seq
MIRT1443018	hsa-miR-4267	CLIP-seq
MIRT1443020	hsa-miR-4280	CLIP-seq
MIRT2132588	hsa-miR-4467	CLIP-seq
MIRT1443024	hsa-miR-4493	CLIP-seq
MIRT1443025	hsa-miR-4514	CLIP-seq
MIRT1443027	hsa-miR-455-5p	CLIP-seq
MIRT2132589	hsa-miR-4667-3p	CLIP-seq
MIRT1443030	hsa-miR-4692	CLIP-seq
MIRT2132590	hsa-miR-4722-5p	CLIP-seq
MIRT2132591	hsa-miR-4723-3p	CLIP-seq
MIRT2132592	hsa-miR-484	CLIP-seq
MIRT2132593	hsa-miR-510	CLIP-seq
MIRT2132594	hsa-miR-520a-5p	CLIP-seq
MIRT2132595	hsa-miR-525-5p	CLIP-seq
MIRT2132596	hsa-miR-526b	CLIP-seq
MIRT2132597	hsa-miR-539	CLIP-seq
MIRT1443034	hsa-miR-567	CLIP-seq
MIRT1443035	hsa-miR-590-3p	CLIP-seq
MIRT1443037	hsa-miR-766	CLIP-seq
MIRT2132598	hsa-miR-937	CLIP-seq
MIRT2132599	hsa-miR-943	CLIP-seq
MIRT1443001	hsa-miR-1197	CLIP-seq
MIRT1443004	hsa-miR-1973	CLIP-seq
MIRT1443005	hsa-miR-198	CLIP-seq
MIRT1443008	hsa-miR-2467-3p	CLIP-seq
MIRT1443010	hsa-miR-297	CLIP-seq
MIRT1443011	hsa-miR-29a	CLIP-seq
MIRT1443012	hsa-miR-29b	CLIP-seq
MIRT1443013	hsa-miR-29c	CLIP-seq
MIRT1443014	hsa-miR-3117-3p	CLIP-seq
MIRT1443015	hsa-miR-3189-5p	CLIP-seq
MIRT1443016	hsa-miR-3591-5p	CLIP-seq
MIRT1443017	hsa-miR-3616-3p	CLIP-seq
MIRT2132586	hsa-miR-4251	CLIP-seq
MIRT1443018	hsa-miR-4267	CLIP-seq
MIRT1443020	hsa-miR-4280	CLIP-seq
MIRT2132588	hsa-miR-4467	CLIP-seq
MIRT1443024	hsa-miR-4493	CLIP-seq
MIRT1443025	hsa-miR-4514	CLIP-seq
MIRT1443028	hsa-miR-4645-5p	CLIP-seq
MIRT1443029	hsa-miR-4673	CLIP-seq
MIRT1443030	hsa-miR-4692	CLIP-seq
MIRT1443031	hsa-miR-491-3p	CLIP-seq
MIRT1443032	hsa-miR-501-3p	CLIP-seq
MIRT1443033	hsa-miR-502-3p	CLIP-seq
MIRT2132597	hsa-miR-539	CLIP-seq
MIRT1443034	hsa-miR-567	CLIP-seq
MIRT2353570	hsa-miR-621	CLIP-seq
MIRT1443037	hsa-miR-766	CLIP-seq
MIRT2132599	hsa-miR-943	CLIP-seq
MIRT1443001	hsa-miR-1197	CLIP-seq
MIRT1443004	hsa-miR-1973	CLIP-seq
MIRT1443014	hsa-miR-3117-3p	CLIP-seq
MIRT1443015	hsa-miR-3189-5p	CLIP-seq
MIRT1443018	hsa-miR-4267	CLIP-seq
MIRT1443024	hsa-miR-4493	CLIP-seq
MIRT1443025	hsa-miR-4514	CLIP-seq
MIRT1443030	hsa-miR-4692	CLIP-seq
MIRT1443037	hsa-miR-766	CLIP-seq
MIRT2434217	hsa-miR-3613-3p	CLIP-seq
MIRT1443031	hsa-miR-491-3p	CLIP-seq
MIRT1443032	hsa-miR-501-3p	CLIP-seq
MIRT1443033	hsa-miR-502-3p	CLIP-seq
MIRT2434218	hsa-miR-548a-3p	CLIP-seq
MIRT2434219	hsa-miR-548ac	CLIP-seq
MIRT2434220	hsa-miR-548ae	CLIP-seq
MIRT2434221	hsa-miR-548aj	CLIP-seq
MIRT2434222	hsa-miR-548am	CLIP-seq
MIRT2434223	hsa-miR-548d-3p	CLIP-seq
MIRT2434224	hsa-miR-548e	CLIP-seq
MIRT2434225	hsa-miR-548f	CLIP-seq
MIRT2434226	hsa-miR-548x	CLIP-seq
MIRT2434227	hsa-miR-548z	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	22801493
GO:0002947	Component	Tumor necrosis factor receptor superfamily complex	TAS	24966471
GO:0003176	Process	Aortic valve development	ISS
GO:0003177	Process	Pulmonary valve development	ISS
GO:0003332	Process	Negative regulation of extracellular matrix constituent secretion	ISS
GO:0005031	Function	Tumor necrosis factor-activated receptor activity	IBA	21873635
GO:0005031	Function	Tumor necrosis factor-activated receptor activity	TAS	2158863
GO:0005515	Function	Protein binding	IPI	1087798, 2848815, 7758105, 8565075, 8943045, 8985253, 9115275, 10848577, 11684708, 12887920, 14743216, 15465831, 16611992, 18022363, 19524513, 19641494, 19781631, 20080539, 20103630, 22028622, 22817896, 23955153, 24070898, 24130170, 24440909, 25241761, 25911380, 30561431
GO:0005576	Component	Extracellular region	NAS	12189246
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	13130484
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	1698610
GO:0006693	Process	Prostaglandin metabolic process	IEA
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0006954	Process	Inflammatory response	ISS
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	TAS
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	TAS	8612133
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0016020	Component	Membrane	TAS	24966471
GO:0016032	Process	Viral process	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	ISS
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	25816133
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS	24966471
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IMP	21410936
GO:0042742	Process	Defense response to bacterium	IEA
GO:0043120	Function	Tumor necrosis factor binding	IBA	21873635
GO:0043120	Function	Tumor necrosis factor binding	IPI	9435233
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IEP	12761501
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045121	Component	Membrane raft	IBA	21873635
GO:0045121	Component	Membrane raft	IDA	17010968
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	21410936
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0050728	Process	Negative regulation of inflammatory response	IMP	13130484
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0071550	Process	Death-inducing signaling complex assembly	TAS
GO:0072659	Process	Protein localization to plasma membrane	IMP	25816133
GO:1902339	Process	Positive regulation of apoptotic process involved in morphogenesis	ISS
GO:1903140	Process	Regulation of establishment of endothelial barrier	IMP	25816133
GO:2000304	Process	Positive regulation of ceramide biosynthetic process	TAS

Other IDs

• MIM: 191190
• HGNC: 11916
• e!Ensembl: ENSG00000067182

Protein

• UniProt ID: P19438
• Protein name: Tumor necrosis factor receptor superfamily member 1A (Tumor necrosis factor receptor 1) (TNF-R1) (Tumor necrosis factor receptor type I) (TNF-RI) (TNFR-I) (p55) (p60) (CD antigen CD120a) [Cleaved into: Tumor necrosis factor receptor superfamily member 1A,
• Protein function: Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation whic
• PDB: 1EXT, 1FT4, 1ICH, 1NCF, 1TNR, 7K7A, 7KP7, 7KP8, 7KPB, 8P6Q
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00020	TNFR_c6	44 → 81	TNFR/NGFR cysteine-rich region	Domain
  PF00020	TNFR_c6	84 → 125	TNFR/NGFR cysteine-rich region	Domain
  PF00020	TNFR_c6	127 → 166	TNFR/NGFR cysteine-rich region	Domain
  PF00531	Death	356 → 441	Death domain	Domain

• Sequence:

  MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCPQGKYIHPQNNSICCT
  KCHKGTYLYNDCPGPGQDTDCRECESGSFTASENHLRHCLSCSKCRKEMGQVEISSCTVD
  RDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQEKQNTVCTCHAGFFLRENECV
  SCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWK
  SKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYT
  PGDCPNFAAPRREVAPPYQGADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLY
  AVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQYSMLATWRRRTPRREATLEL
  LGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR

• Sequence length: 455

Pathways

KEGG:

MAPK signaling pathway
Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
NF-kappa B signaling pathway
Sphingolipid signaling pathway
mTOR signaling pathway
Apoptosis
Apoptosis - multiple species
Necroptosis
Osteoclast differentiation
TNF signaling pathway
Adipocytokine signaling pathway
Insulin resistance
Non-alcoholic fatty liver disease
Alcoholic liver disease
Alzheimer disease
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Chagas disease
Toxoplasmosis
Tuberculosis
Hepatitis C
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

TNFR1-induced proapoptotic signaling
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
TNFR1-mediated ceramide production
TNFs bind their physiological receptors
Interleukin-10 signaling
TNF signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Amyloidosis	Amyloidosis	rs63750567, rs63750560, rs387906821, rs387906822, rs387906823, rs1561123748, rs140352180, rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoimmune diseases	Autoimmune Diseases	rs41285370, rs869025224	21074606
Autoinflammatory disease	Autoinflammatory disorder, Hereditary Autoinflammatory Diseases	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924	17360963, 10199409
Behcet syndrome	Behcet Syndrome	rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741
Cystic fibrosis	Cystic Fibrosis	rs113993960, rs121908745, rs77101217, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121908758, rs75527207, rs74597325, rs75549581, rs121908811, rs76649725, rs267606722, rs121909008, rs77010898, rs121909009, rs121909010, rs387906360, rs387906361, rs80034486, rs74767530, rs387906362, rs121909011, rs121908776, rs121909012, rs75961395, rs79850223, rs121908804, rs387906363, rs387906364, rs121908788, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs121909017, rs121909018, rs121909019, rs143570767, rs387906366, rs78194216, rs75528968, rs75039782, rs77902683, rs121908748, rs387906367, rs121909023, rs141158996, rs121908766, rs387906369, rs387906370, rs121909025, rs121909026, rs121908751, rs121908750, rs121909028, rs746418935, rs79282516, rs387906371, rs77409459, rs78802634, rs121909031, rs76554633, rs121909033, rs75115087, rs79633941, rs121908773, rs121909036, rs121909037, rs79635528, rs121908761, rs121908764, rs387906375, rs75389940, rs121909042, rs121908775, rs387906376, rs387906377, rs387906378, rs121909043, rs1797973431, rs387906379, rs121908784, rs121908769, rs121909045, rs387906380, rs267606723, rs121909047, rs75096551, rs193922498, rs193922500, rs121908805, rs139573311, rs193922501, rs193922503, rs193922504, rs193922505, rs1554389296, rs121908812, rs121908799, rs121908746, rs74467662, rs193922509, rs193922510, rs386134230, rs193922514, rs121908797, rs193922515, rs144055758, rs76151804, rs78984783, rs77035409, rs193922519, rs193922520, rs193922521, rs193922523, rs193922524, rs193922526, rs193922528, rs193922532, rs121908767, rs78756941, rs77188391, rs80224560, rs121908789, rs77284892, rs121908779, rs79660178, rs36210737, rs121908749, rs121908763, rs121908792, rs121908794, rs121908801, rs121908796, rs121908772, rs121908768, rs79031340, rs78909279, rs397508136, rs397508137, rs397508138, rs397508139, rs397508140, rs397508141, rs397508144, rs121908774, rs397508146, rs397508148, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508169, rs397508171, rs397508173, rs397508174, rs397508175, rs397508176, rs397508177, rs397508178, rs397508179, rs397508181, rs397508182, rs397508183, rs397508184, rs397508186, rs1800074, rs397508190, rs397508192, rs397508195, rs397508196, rs151020603, rs397508197, rs397508198, rs397508200, rs397508201, rs397508203, rs397508204, rs397508205, rs397508207, rs397508208, rs397508209, rs397508211, rs397508214, rs397508216, rs397508217, rs397508222, rs397508223, rs397508225, rs397508227, rs397508230, rs397508231, rs397508233, rs397508243, rs121908800, rs397508244, rs397508246, rs397508247, rs397508249, rs397508250, rs397508251, rs397508252, rs397508253, rs397508257, rs397508258, rs397508261, rs397508263, rs397508266, rs397508267, rs397508269, rs397508272, rs397508273, rs397508274, rs397508276, rs397508277, rs397508278, rs397508279, rs397508283, rs397508285, rs397508289, rs397508290, rs397508295, rs397508296, rs397508298, rs397508300, rs397508302, rs397508303, rs397508306, rs397508307, rs397508308, rs121908777, rs397508310, rs201978662, rs201124247, rs139468767, rs397508316, rs397508320, rs397508323, rs121908780, rs121908809, rs397508324, rs397508325, rs397508327, rs397508328, rs397508331, rs397508333, rs397508334, rs397508336, rs397508339, rs397508341, rs121908760, rs397508343, rs397508344, rs397508345, rs397508346, rs397508348, rs397508350, rs397508351, rs397508353, rs397508354, rs397508356, rs121908810, rs397508364, rs397508365, rs397508360, rs397508368, rs374946172, rs397508371, rs145449046, rs397508372, rs397508376, rs397508377, rs397508378, rs397508379, rs397508380, rs397508382, rs397508387, rs397508388, rs397508389, rs397508391, rs397508393, rs397508394, rs397508399, rs397508400, rs397508401, rs397508412, rs397508413, rs397508416, rs121908791, rs121909034, rs149790377, rs397508426, rs397508431, rs397508433, rs397508435, rs397508440, rs397508441, rs397508445, rs397508447, rs397508451, rs397508453, rs397508458, rs397508461, rs397508462, rs397508464, rs397508466, rs397508467, rs397508470, rs1562914028, rs397508472, rs397508475, rs397508476, rs397508477, rs397508479, rs397508480, rs397508482, rs397508484, rs121908781, rs397508486, rs397508490, rs1554392027, rs397508493, rs397508496, rs397508498, rs397508499, rs397508500, rs397508503, rs397508505, rs397508506, rs397508509, rs397508510, rs142394380, rs397508514, rs397508516, rs78769542, rs397508517, rs397508518, rs139304906, rs121908798, rs397508524, rs397508525, rs397508528, rs1554392248, rs397508529, rs397508531, rs397508532, rs397508533, rs397508534, rs397508535, rs397508536, rs397508538, rs146521846, rs397508547, rs397508549, rs397508552, rs397508555, rs397508557, rs397508558, rs397508559, rs397508560, rs397508561, rs139729994, rs397508570, rs397508571, rs397508572, rs397508573, rs397508575, rs77834169, rs397508578, rs397508579, rs397508580, rs397508581, rs397508582, rs397508587, rs121908765, rs397508588, rs397508589, rs35396083, rs397508595, rs144781064, rs1554395323, rs397508596, rs397508598, rs397508599, rs397508600, rs397508602, rs397508604, rs397508609, rs397508612, rs397508613, rs397508614, rs397508615, rs397508616, rs397508620, rs146795445, rs397508624, rs387906373, rs397508630, rs121908808, rs397508633, rs397508635, rs397508636, rs397508637, rs397508643, rs397508645, rs397508650, rs397508653, rs397508654, rs397508657, rs397508658, rs397508662, rs397508667, rs397508668, rs397508671, rs397508672, rs397508673, rs397508675, rs397508678, rs397508680, rs397508684, rs397508685, rs397508686, rs397508689, rs76371115, rs397508695, rs397508696, rs397508701, rs397508702, rs372227120, rs397508706, rs397508707, rs397508710, rs397508712, rs397508714, rs397508715, rs397508716, rs374705585, rs121908770, rs397508718, rs397508720, rs397508721, rs397508729, rs397508731, rs397508732, rs397508734, rs397508735, rs397508736, rs397508737, rs397508740, rs397508746, rs121908771, rs397508750, rs1562882675, rs397508758, rs397508759, rs397508760, rs397508761, rs78440224, rs397508762, rs121908793, rs121908802, rs397508764, rs397508767, rs397508768, rs121908803, rs397508771, rs397508775, rs397508777, rs397508778, rs397508781, rs397508782, rs397508783, rs397508784, rs397508791, rs397508794, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508815, rs397508816, rs397508820, rs397508824, rs397515498, rs672601317, rs672601316, rs672601315, rs672601314, rs786204693, rs397508189, rs755416052, rs786205658, rs797045160, rs1805177, rs797045161, rs387906359, rs797045159, rs3034796, rs886042527, rs1057516232, rs1057517342, rs1057516646, rs1057516619, rs1057516387, rs1057516236, rs1057517276, rs1057517068, rs1057517032, rs1057516415, rs780546355, rs1057516970, rs1057516609, rs121908782, rs1057517404, rs754392413, rs1057516457, rs397508683, rs1800135, rs397508709, rs1060503164, rs775663783, rs1554391033, rs1554391489, rs763843966, rs797045156, rs397508294, rs1554379887, rs1554380497, rs397508163, rs121908785, rs1235397597, rs121909005, rs797045162, rs397508355, rs397508405, rs768963919, rs1554392800, rs1554392801, rs1554396393, rs375661578, rs397508669, rs1554397527, rs397508693, rs1554381605, rs766063304, rs773739166, rs1554379899, rs141482808, rs1554380789, rs1290078234, rs1554396384, rs756219310, rs1554390958, rs1554389836, rs1554398510, rs1801178, rs1554390859, rs1554379846, rs1554380311, rs1199914684, rs367934560, rs1554389241, rs762844777, rs750559671, rs1554381596, rs1554388867, rs1554389346, rs397508386, rs1554380465, rs200955612, rs1554397593, rs1554397769, rs1554380828, rs533959068, rs1554384343, rs1351058559, rs1554389062, rs1554390864, rs1554392282, rs1554392798, rs1554397750, rs984281283, rs1554389486, rs1554391454, rs1554391491, rs1554397497, rs758921701, rs1562895066, rs1562928927, rs1330431481, rs1317756653, rs1562876396, rs1562882755, rs397508256, rs1562884046, rs397508522, rs1562889382, rs1562890223, rs193922730, rs1562891084, rs1204521684, rs1562892359, rs1562892387, rs1562892823, rs1562892895, rs1562898465, rs1562898471, rs1562898496, rs1562898510, rs1562907260, rs1562907873, rs397508381, rs1562911661, rs1562911739, rs1562914082, rs1562914107, rs1562914200, rs1562914641, rs779177972, rs1562914838, rs1470125842, rs397508544, rs1562919371, rs1562923164, rs397508601, rs193922732, rs397508661, rs1562928997, rs1562929633, rs1562929636, rs1562895104, rs1562907232, rs1562907896, rs1562908997, rs1562894926, rs750558115, rs1562876459, rs1562895128, rs756206533, rs1481564133, rs1562914072, rs1562923253, rs1562889180, rs1562894928, rs1562906265, rs1562908889, rs1562928854, rs1584789514, rs1584785196, rs1584793546, rs1301983423, rs1408746819, rs1584787119, rs1584784850, rs1584786454, rs1584789226, rs1584793633, rs1584848754, rs397508404, rs1584789180, rs1584787782, rs1584798316, rs397508699, rs1584850283, rs756287836, rs1299250440, rs377447726, rs1584776437, rs1584812217, rs1584837090, rs1584764596, rs1584785072, rs1584786892, rs1584787657, rs1584787716, rs397508811, rs1584789267, rs1584793451, rs1584810167, rs1381239923, rs1584812361, rs1584812425, rs1584812646, rs1584812696, rs1584812777, rs1584817344, rs1584819340, rs1584822237, rs1584830149, rs1584830154, rs1584837173, rs397508666, rs1584848901, rs1584790302, rs1584821306, rs1584824301, rs1584793368, rs1798858347, rs1792366769, rs1792456313, rs1798467599	16463024
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	11882518
Migraine	Migraine Disorders	rs794727411
Multiple sclerosis	Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating, NON RARE IN EUROPE: Multiple sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	21833088, 24076602, 27386562, 19525953, 24076602, 19525953
Myocardial infarction	Myocardial Failure	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	16360360
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	20659789
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease name	Disease term	dbSNP ID	References
Ankylosing spondylitis	Ankylosing spondylitis		23749187, 26974007
Anorexia	Anorexia		18801959
Biliary cirrhosis	Biliary cirrhosis, Biliary Cirrhosis, Primary, 1, Primary biliary cirrhosis		21399635, 28425483, 21399635, 26394269, 22961000
Cerebral ischemia	Brain Ischemia		15829914
Cholangitis	Cholangitis, Sclerosing		26974007
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569	16360360
Conjunctivitis	Conjunctivitis
Cranial nerve paralysis	Cranial nerve palsies
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26974007
Cystic fibrosis of pancreas	Fibrocystic Disease of Pancreas		16463024
Erysipelas	Erysipelas
Fasciitis	Fasciitis
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided	rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741	16360360
Hepatic amyloidosis	Hepatic amyloidosis
Intermittent hydrarthrosis	Intermittent hydrarthrosis
Intermittent joint effusion	Intermittent joint effusion		22887853
Intestinal obstruction	Intestinal Obstruction
Mental depression	Mental Depression, Depressive disorder	rs587778876, rs587778877	21097524, 17094069, 21194425, 16458261, 24094876, 21097524, 21194425, 17094069, 16458261, 24094876
Myositis	Myositis
Pericarditis	Pericarditis
Pleuritis	Pleurisy
Pulmonary cystic fibrosis	Pulmonary Cystic Fibrosis		16463024
Biliary cholangitis	Secondary Biliary Cholangitis		21399635
Ulcerative colitis	Ulcerative Colitis		26974007
Uveitis	Uveitis