RAG1 (recombination activating 1)

Gene

• Entrez ID: 5896
• Gene name: Recombination activating 1
• Gene symbol: RAG1
• Synonyms: RAG-1, RNF74
• Chromosome: 11
• Chromosome location: 11p12
• Summary: The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933392	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894282	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs104894283	T>G	Pathogenic	Coding sequence variant, stop gained
rs104894284	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894285	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894286	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104894287	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894288	A>C	Pathogenic	Missense variant, coding sequence variant
rs104894289	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894290	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894291	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894292	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894298	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918568	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918569	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918570	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121918571	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918572	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs141524540	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs146457887	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs149229197	G>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs150739647	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs193922461	G>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs193922462	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs193922463	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs193922464	C>G,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs199474676	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199474680	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199474684	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199474685	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199474686	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199474690	A>G,T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs539590514	A>G	Pathogenic	Missense variant, coding sequence variant
rs568867325	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs749223640	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs752020152	C>A,G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs754502950	C>G	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs755551812	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs757797994	C>T	Pathogenic	Coding sequence variant, stop gained
rs764981110	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs768860215	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs772340017	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs772962160	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs773929270	C>T	Pathogenic	Coding sequence variant, stop gained
rs775412266	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs786205615	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs878853004	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs878853031	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041745	->A	Pathogenic, benign	Frameshift variant, coding sequence variant
rs902350422	T>A	Pathogenic	Coding sequence variant, stop gained
rs1064793248	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793249	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1241698978	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554944856	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1564988767	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564988958	A>G	Pathogenic	Coding sequence variant, missense variant
rs1564989420	G>C	Pathogenic	Coding sequence variant, missense variant
rs1564989455	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564989610	G>C	Pathogenic	Coding sequence variant, missense variant
rs1564989655	T>C	Pathogenic	Coding sequence variant, missense variant
rs1590701881	TGATGAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590702629	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590702729	GTCTTGAATTCCCTGATGGTGAAATGTC>AAAAGAGTG	Pathogenic	Coding sequence variant, frameshift variant
rs1590702874	C>T	Pathogenic	Coding sequence variant, missense variant
rs1590703275	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590703740	A>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045071	hsa-miR-186-5p	CLASH	23622248
MIRT530853	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT530852	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT530851	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT530850	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT530849	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT530848	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT530847	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT530846	hsa-miR-3666	HITS-CLIP	19536157
MIRT530845	hsa-miR-4295	HITS-CLIP	19536157
MIRT530844	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT530843	hsa-miR-1283	HITS-CLIP	19536157
MIRT530842	hsa-miR-4795-5p	HITS-CLIP	19536157
MIRT530841	hsa-miR-3616-5p	HITS-CLIP	19536157
MIRT530840	hsa-miR-573	HITS-CLIP	19536157
MIRT545107	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT545108	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT545106	hsa-miR-105-5p	PAR-CLIP	21572407
MIRT545105	hsa-miR-7853-5p	PAR-CLIP	21572407
MIRT545104	hsa-miR-4729	PAR-CLIP	21572407
MIRT545103	hsa-miR-5696	PAR-CLIP	21572407
MIRT530855	hsa-miR-548av-3p	PAR-CLIP	22012620
MIRT530854	hsa-miR-548g-3p	PAR-CLIP	22012620
MIRT530853	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT530852	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT530851	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT530850	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT530849	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT530848	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT530847	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT530846	hsa-miR-3666	PAR-CLIP	22012620
MIRT530845	hsa-miR-4295	PAR-CLIP	22012620
MIRT530844	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT530843	hsa-miR-1283	PAR-CLIP	22012620
MIRT530842	hsa-miR-4795-5p	PAR-CLIP	22012620
MIRT530841	hsa-miR-3616-5p	PAR-CLIP	22012620
MIRT530840	hsa-miR-573	PAR-CLIP	22012620
MIRT530853	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT530852	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT530851	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT530850	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT530849	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT530848	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT530847	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT530846	hsa-miR-3666	HITS-CLIP	19536157
MIRT530845	hsa-miR-4295	HITS-CLIP	19536157
MIRT530844	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT530843	hsa-miR-1283	HITS-CLIP	19536157
MIRT530842	hsa-miR-4795-5p	HITS-CLIP	19536157
MIRT530841	hsa-miR-3616-5p	HITS-CLIP	19536157
MIRT530840	hsa-miR-573	HITS-CLIP	19536157
MIRT545107	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT545108	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT545106	hsa-miR-105-5p	PAR-CLIP	21572407
MIRT545105	hsa-miR-7853-5p	PAR-CLIP	21572407
MIRT545104	hsa-miR-4729	PAR-CLIP	21572407
MIRT545103	hsa-miR-5696	PAR-CLIP	21572407
MIRT530855	hsa-miR-548av-3p	PAR-CLIP	22012620
MIRT530854	hsa-miR-548g-3p	PAR-CLIP	22012620
MIRT530853	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT530852	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT530851	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT530850	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT530849	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT530848	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT530847	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT530846	hsa-miR-3666	PAR-CLIP	22012620
MIRT530845	hsa-miR-4295	PAR-CLIP	22012620
MIRT530844	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT530843	hsa-miR-1283	PAR-CLIP	22012620
MIRT530842	hsa-miR-4795-5p	PAR-CLIP	22012620
MIRT530841	hsa-miR-3616-5p	PAR-CLIP	22012620
MIRT530840	hsa-miR-573	PAR-CLIP	22012620
MIRT1288389	hsa-let-7a	CLIP-seq
MIRT1288390	hsa-let-7b	CLIP-seq
MIRT1288391	hsa-let-7c	CLIP-seq
MIRT1288392	hsa-let-7d	CLIP-seq
MIRT1288393	hsa-let-7e	CLIP-seq
MIRT1288394	hsa-let-7f	CLIP-seq
MIRT1288395	hsa-let-7g	CLIP-seq
MIRT1288396	hsa-let-7i	CLIP-seq
MIRT1288397	hsa-miR-202	CLIP-seq
MIRT1288398	hsa-miR-3145-5p	CLIP-seq
MIRT1288399	hsa-miR-3182	CLIP-seq
MIRT1288400	hsa-miR-3668	CLIP-seq
MIRT1288401	hsa-miR-3924	CLIP-seq
MIRT1288402	hsa-miR-4303	CLIP-seq
MIRT1288403	hsa-miR-4317	CLIP-seq
MIRT1288404	hsa-miR-432	CLIP-seq
MIRT1288405	hsa-miR-4458	CLIP-seq
MIRT1288406	hsa-miR-4500	CLIP-seq
MIRT1288407	hsa-miR-4649-3p	CLIP-seq
MIRT1288408	hsa-miR-4714-3p	CLIP-seq
MIRT1288409	hsa-miR-4718	CLIP-seq
MIRT1288410	hsa-miR-4762-3p	CLIP-seq
MIRT1288411	hsa-miR-4763-5p	CLIP-seq
MIRT1288412	hsa-miR-4764-3p	CLIP-seq
MIRT1288413	hsa-miR-4766-5p	CLIP-seq
MIRT1288414	hsa-miR-508-5p	CLIP-seq
MIRT1288415	hsa-miR-548a-5p	CLIP-seq
MIRT1288416	hsa-miR-548ab	CLIP-seq
MIRT1288417	hsa-miR-548ak	CLIP-seq
MIRT1288418	hsa-miR-548b-5p	CLIP-seq
MIRT1288419	hsa-miR-548c-5p	CLIP-seq
MIRT1288420	hsa-miR-548d-5p	CLIP-seq
MIRT1288421	hsa-miR-548g	CLIP-seq
MIRT1288422	hsa-miR-548h	CLIP-seq
MIRT1288423	hsa-miR-548i	CLIP-seq
MIRT1288424	hsa-miR-548j	CLIP-seq
MIRT1288425	hsa-miR-548w	CLIP-seq
MIRT1288426	hsa-miR-548y	CLIP-seq
MIRT1288427	hsa-miR-559	CLIP-seq
MIRT1288428	hsa-miR-618	CLIP-seq
MIRT1288429	hsa-miR-98	CLIP-seq
MIRT2085484	hsa-miR-2467-3p	CLIP-seq
MIRT2085485	hsa-miR-3121-3p	CLIP-seq
MIRT2085486	hsa-miR-3617	CLIP-seq
MIRT2085487	hsa-miR-3678-3p	CLIP-seq
MIRT2085488	hsa-miR-3977	CLIP-seq
MIRT2085489	hsa-miR-4279	CLIP-seq
MIRT2085490	hsa-miR-641	CLIP-seq
MIRT2085491	hsa-miR-670	CLIP-seq
MIRT2310808	hsa-miR-1270	CLIP-seq
MIRT2310809	hsa-miR-3153	CLIP-seq
MIRT2310810	hsa-miR-421	CLIP-seq
MIRT1288404	hsa-miR-432	CLIP-seq
MIRT2310811	hsa-miR-4683	CLIP-seq
MIRT2310812	hsa-miR-4698	CLIP-seq
MIRT2310813	hsa-miR-4709-5p	CLIP-seq
MIRT2310814	hsa-miR-548c-3p	CLIP-seq
MIRT2310815	hsa-miR-620	CLIP-seq
MIRT2457702	hsa-miR-1279	CLIP-seq
MIRT2457703	hsa-miR-203	CLIP-seq
MIRT2607214	hsa-miR-1200	CLIP-seq
MIRT2607215	hsa-miR-3137	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXO1	Unknown	21655267
FOXP1	Unknown	21655267
TCF3	Unknown	21655267

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IBA	21873635
GO:0002331	Process	Pre-B cell allelic exclusion	IBA	21873635
GO:0002331	Process	Pre-B cell allelic exclusion	ISS
GO:0003677	Function	DNA binding	TAS	9630231
GO:0004519	Function	Endonuclease activity	ISS
GO:0004842	Function	Ubiquitin-protein transferase activity	ISS
GO:0005515	Function	Protein binding	IPI	17474147
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0006310	Process	DNA recombination	TAS	9630231
GO:0006955	Process	Immune response	TAS	9630231
GO:0008270	Function	Zinc ion binding	ISS
GO:0008542	Process	Visual learning	IEA
GO:0010390	Process	Histone monoubiquitination	IBA	21873635
GO:0010390	Process	Histone monoubiquitination	ISS
GO:0030183	Process	B cell differentiation	ISS
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0033151	Process	V(D)J recombination	IBA	21873635
GO:0033151	Process	V(D)J recombination	IMP	14670978
GO:0033151	Process	V(D)J recombination	ISS
GO:0042393	Function	Histone binding	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043029	Process	T cell homeostasis	IEA
GO:0043154	Process	Negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IBA	21873635
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045582	Process	Positive regulation of T cell differentiation	IEA
GO:0046872	Function	Metal ion binding	ISS
GO:0048538	Process	Thymus development	IEA
GO:0051865	Process	Protein autoubiquitination	ISS
GO:0061630	Function	Ubiquitin protein ligase activity	IBA	21873635
GO:0070244	Process	Negative regulation of thymocyte apoptotic process	IEA
GO:0090305	Process	Nucleic acid phosphodiester bond hydrolysis	IEA
GO:0097519	Component	DNA recombinase complex	IBA	21873635
GO:1905347	Component	Endodeoxyribonuclease complex	IBA	21873635
GO:1990238	Function	Double-stranded DNA endodeoxyribonuclease activity	IBA	21873635
GO:2000822	Process	Regulation of behavioral fear response	IEA

Other IDs

• MIM: 179615
• HGNC: 9831
• e!Ensembl: ENSG00000166349

Protein

• UniProt ID: P15918
• Protein name: V(D)J recombination-activating protein 1 (RAG-1) (RING finger protein 74) [Includes: Endonuclease RAG1 (EC 3.1.-.-); E3 ubiquitin-protein ligase RAG1 (EC 2.3.2.27) (RING-type E3 ubiquitin transferase RAG1)]
• Protein function: Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12560	RAG1_imp_bd	11 → 291	RAG1 importin binding	Family
  PF13923	zf-C3HC4_2	292 → 331		Domain
  PF10426	zf-RAG1	354 → 383	Recombination-activating protein 1 zinc-finger domain	Domain
  PF12940	RAG1	384 → 1028	Recombination-activation protein 1 (RAG1), recombinase	Family

• Sequence:

  MAASFPPTLGLSSAPDEIQHPHIKFSEWKFKLFRVRSFEKTPEEAQKEKKDSFEGKPSLE
  QSPAVLDKADGQKPVPTQPLLKAHPKFSKKFHDNEKARGKAIHQANLRHLCRICGNSFRA
  DEHNRRYPVHGPVDGKTLGLLRKKEKRATSWPDLIAKVFRIDVKADVDSIHPTEFCHNCW
  SIMHRKFSSAPCEVYFPRNVTMEWHPHTPSCDICNTARRGLKRKSLQPNLQLSKKLKTVL
  DQARQARQHKRRAQARISSKDVMKKIANCSKIHLSTKLLAVDFPEHFVKSISCQICEHIL
  ADPVETNCKHVFCRVCILRCLKVMGSYCPSCRYPCFPTDLESPVKSFLSVLNSLMVKCPA
  KECNEEVSLEKYNHHISSHKESKEIFVHINKGGRPRQHLLSLTRRAQKHRLRELKLQVKA
  FADKEEGGDVKSVCMTLFLLALRARNEHRQADELEAIMQGKGSGLQPAVCLAIRVNTFLS
  CSQYHKMYRTVKAITGRQIFQPLHALRNAEKVLLPGYHHFEWQPPLKNVSSSTDVGIIDG
  LSGLSSSVDDYPVDTIAKRFRYDSALVSALMDMEEDILEGMRSQDLDDYLNGPFTVVVKE
  SCDGMGDVSEKHGSGPVVPEKAVRFSFTIMKITIAHSSQNVKVFEEAKPNSELCCKPLCL
  MLADESDHETLTAILSPLIAEREAMKSSELMLELGGILRTFKFIFRGTGYDEKLVREVEG
  LEASGSVYICTLCDATRLEASQNLVFHSITRSHAENLERYEVWRSNPYHESVEELRDRVK
  GVSAKPFIETVPSIDALHCDIGNAAEFYKIFQLEIGEVYKNPNASKEERKRWQATLDKHL
  RKKMNLKPIMRMNGNFARKLMTKETVDAVCELIPSEERHEALRELMDLYLKMKPVWRSSC
  PAKECPESLCQYSFNSQRFAELLSTKFKYRYEGKITNYFHKTLAHVPEIIERDGSIGAWA
  SEGNESGNKLFRRFRKMNARQSKCYEMEDVLKHHWLYTSKYLQKFMNAHNALKTSGFTMN
  PQASLGDPLGIEDSLESQDSMEF

• Sequence length: 1043

Pathways

KEGG:

FoxO signaling pathway
Primary immunodeficiency

Reactome:

MAPK6/MAPK4 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Immunodeficiency	Primary immune deficiency disorder	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970	12200379, 16960852, 10891502, 26457731, 19470080, 21131235, 22841008
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475
Severe combined immunodeficiency disease	Severe Combined Immunodeficiency, Combined immunodeficiency, Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, Severe combined immunodeficiency due to complete RAG1/2 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	18768869, 11213808, 20956421, 18463379, 11971977, 27484032, 17572155, 25869295, 10701853, 8810255, 9630231, 11133745, 18822103, 19458910, 25516070, 18056378, 19064334, 11313270, 18701881, 18442948, 20489056, 21131235, 24290284, 19830075, 19912631, 17572155, 17075247

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia
Combined cellular and humoral immune defects with granulomas	Combined Cellular And Humoral Immune Defects With Granulomas, Combined immunodeficiency with granulomatosis		11133745, 17075247, 18822103, 19458910, 18701881, 18463379, 20489056, 10701853, 19064334, 11313270, 25516070, 18056378, 19830075, 24290284, 18442948, 17572155, 21131235, 9630231
Congenital hypoplasia of thymus	Congenital hypoplasia of thymus
Conjunctivitis	Conjunctivitis
Eosinophilia	Eosinophilia
Exfoliative dermatitis	Exfoliative dermatitis
Hypoproteinemia	Hypoproteinemia
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Lymphadenitis	Lymphadenitis
Mastoiditis	Mastoiditis
Omenn syndrome	Omenn Syndrome		16960852, 21131235, 21771083, 9630231, 19470080, 11133745, 11908269, 21664875, 19912631, 10891502, 26457731, 12200379, 22841008, 20956421, 17075247, 11971977, 10606976, 17176792, 21624848
Otitis media	Otitis Media	rs601338, rs1047781, rs1800028
Prostatic neoplasms	Prostatic Neoplasms		29610475
Reticuloendotheliosis with eosinophilia	Reticuloendotheliosis, familial, with eosinophilia
Thyroiditis	Thyroiditis