Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5896
Gene name	Recombination activating 1
Gene symbol	RAG1
Synonyms (NCBI Gene)	RAG-1RNF74
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

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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

135

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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

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

Show/Hide all (61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IBA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002331	Process	Pre-B cell allelic exclusion	IBA
GO:0002331	Process	Pre-B cell allelic exclusion	IEA
GO:0002331	Process	Pre-B cell allelic exclusion	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9630231
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004519	Function	Endonuclease activity	ISS
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	ISS
GO:0005515	Function	Protein binding	IPI	17474147
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	TAS	9630231
GO:0006325	Process	Chromatin organization	IEA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	9630231
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	ISS
GO:0008542	Process	Visual learning	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0030183	Process	B cell differentiation	ISS
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0033151	Process	V(D)J recombination	IBA
GO:0033151	Process	V(D)J recombination	IEA
GO:0033151	Process	V(D)J recombination	IMP	14670978
GO:0033151	Process	V(D)J recombination	ISS
GO:0042393	Function	Histone binding	IEA
GO:0042393	Function	Histone binding	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043029	Process	T cell homeostasis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IBA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045580	Process	Regulation of T cell differentiation	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046872	Function	Metal ion binding	ISS
GO:0048538	Process	Thymus development	IEA
GO:0051865	Process	Protein autoubiquitination	IEA
GO:0051865	Process	Protein autoubiquitination	ISS
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070233	Process	Negative regulation of T cell apoptotic process	IEA
GO:0070244	Process	Negative regulation of thymocyte apoptotic process	IEA
GO:0097519	Component	DNA recombinase complex	IBA
GO:1905347	Component	Endodeoxyribonuclease complex	IBA
GO:1990238	Function	Double-stranded DNA endonuclease activity	IBA
GO:2000822	Process	Regulation of behavioral fear response	IEA

MIM	HGNC	e!Ensembl
179615	9831	ENSG00000166349

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

Tissue specificity

TISSUE SPECIFICITY: Maturing lymphoid cells.

Sequence

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

Sequence length

1043

Interactions

View interactions

	KEGG		Reactome
	FoxO signaling pathway Primary immunodeficiency		MAPK6/MAPK4 signaling

2001

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined immunodeficiency due to partial RAG1 deficiency	Pathogenic; Likely pathogenic	rs1850837839, rs750055861, rs182385524, rs2133298263, rs1254739284, rs2494752085, rs748296558, rs769349662, rs200300629, rs2494752082, rs1417654713, rs878853004, rs878853031, rs760816389, rs772962160 View all (66 more)	RCV001336878 RCV002488205 RCV003473990 RCV003475086 RCV003475325 RCV003475328 RCV003475495 RCV003475508 RCV004572850 RCV003475425 RCV003475470 RCV005044465 RCV003475050 RCV003475554 RCV002279720 RCV004566740 RCV005042041 RCV003473089 RCV003473090 RCV003473091 RCV003473092 RCV003473093 RCV003473094 RCV000014040 RCV000014041 RCV003473095 RCV004566741 RCV003473096 RCV003473097 RCV003473098 RCV003472546 RCV003472547 RCV003472548 RCV003472549 RCV003472550 RCV003472552 RCV003472553 RCV003472554 RCV003472555 RCV003472556 RCV003472557 RCV003472558 RCV003472560 RCV003472561 RCV003472562 RCV003472563 RCV003472564 RCV004573298 RCV005040525 RCV004574679 RCV004574680 RCV004574681 RCV005040708 RCV003476001 RCV004568146 RCV003473148 RCV001336880 RCV002491148 RCV000768065 RCV002279730 RCV003472286 RCV000768299 RCV003472327 RCV003472380 RCV005047106 RCV003474643 RCV000762842 RCV003474645 RCV003474646 RCV002498351 RCV003474648 RCV005042180 RCV005042181 RCV005042182 RCV003473700 RCV003473687 RCV002497461 RCV003473673 RCV003473710 RCV003473711 RCV001253457
Combined immunodeficiency with skin granulomas	Pathogenic; Likely pathogenic	rs1850837839, rs750055861, rs2133296385, rs749360497, rs182385524, rs2133298263, rs2133297485, rs1195475275, rs2133297611, rs1317208073, rs1254739284, rs2494752085, rs2494754724, rs369990217, rs748296558 View all (97 more)	RCV002546796 RCV001385111 RCV001389760 RCV001385792 RCV001389162 RCV003772142 RCV001970428 RCV002004080 RCV001956200 RCV001873926 RCV003096337 RCV005042783 RCV003037382 RCV003058302 RCV003062360 RCV003086218 RCV003108847 RCV002824146 RCV002875626 RCV002917360 RCV003012541 RCV003029402 RCV003027260 RCV003030375 RCV003765454 RCV001854775 RCV003779861 RCV000282657 RCV003764567 RCV005042041 RCV001332464 RCV003764569 RCV000688686 RCV001386663 RCV001389160 RCV003764570 RCV001205083 RCV000014042 RCV000014044 RCV000014045 RCV000820844 RCV000801211 RCV003779078 RCV005051315 RCV003779079 RCV003779080 RCV005220720 RCV003779081 RCV003779082 RCV003779083 RCV003779084 RCV003785441 RCV003796011 RCV003785291 RCV003783574 RCV003779475 RCV003782587 RCV003787200 RCV003790463 RCV003806209 RCV003805632 RCV003805783 RCV003799199 RCV003797691 RCV003805332 RCV003803268 RCV003794810 RCV003800793 RCV003813650 RCV003813330 RCV003812533 RCV003810574 RCV003807233 RCV003805057 RCV003810226 RCV005040708 RCV000542154 RCV000022746 RCV005367367 RCV000022745 RCV000820376 RCV000526312 RCV001041560 RCV000695106 RCV001855959 RCV003768298 RCV000768299 RCV000817183 RCV000804696 RCV000817355 RCV000988527 RCV000988529 RCV002513782 RCV000762842 RCV001390074 RCV000819860 RCV001235005 RCV000791763 RCV001854249 RCV002514309 RCV005042180 RCV003764744 RCV000548870 RCV001384587 RCV001070571 RCV001065315 RCV001065314 RCV001060735 RCV001070572 RCV003769021 RCV002557957 RCV002555953 RCV001242919 RCV001253458
Histiocytic medullary reticulosis	Pathogenic; Likely pathogenic	rs1850837839, rs750055861, rs2133298263, rs2494750713, rs2494752085, rs748296558, rs200300629, rs878853004, rs878853031, rs760816389, rs772962160, rs104894282, rs104894284, rs104894289, rs104894290 View all (30 more)	RCV005050339 RCV002488205 RCV002285496 RCV002283780 RCV002283898 RCV005045199 RCV005051260 RCV005044465 RCV001174963 RCV005047483 RCV002279719 RCV005042041 RCV000014025 RCV000014026 RCV000014027 RCV000014028 RCV000014029 RCV000014030 RCV000014032 RCV000014033 RCV005042044 RCV000014046 RCV005042046 RCV005051315 RCV005047610 RCV005040525 RCV005040708 RCV005044626 RCV005367367 RCV005042097 RCV002491148 RCV000768065 RCV002279728 RCV000768299 RCV005047087 RCV005047106 RCV002283452 RCV000762842 RCV002284360 RCV005042180 RCV001729376 RCV005042182 RCV002282448 RCV002497461 RCV005049767
Inherited Immunodeficiency Diseases	Likely pathogenic; Pathogenic	rs104894286	RCV001027614
RAG1-related disorder	Pathogenic; Likely pathogenic	rs182385524, rs2133294899, rs1254739284, rs772962160, rs539590514, rs193922464, rs755551812, rs764981110, rs141524540	RCV004528500 RCV005869751 RCV004529119 RCV000779060 RCV004735502 RCV000778322 RCV000778323 RCV004538084 RCV004734624
Recombinase activating gene 1 deficiency	Pathogenic; Likely pathogenic	rs1850837839, rs878853031, rs772962160, rs104894283, rs902350422, rs773929270, rs199474685, rs199474676, rs1850847819	RCV003382531 RCV003401159 RCV003401250 RCV003991459 RCV004765334 RCV003396335 RCV003398651 RCV004765313 RCV003991481
See cases	Likely pathogenic; Pathogenic	rs104894284, rs121918569	RCV005887491 RCV005887492
Severe combined immunodeficiency disease	Pathogenic; Likely pathogenic	rs750055861, rs1254739284, rs748296558, rs200300629, rs760816389, rs772962160, rs28933392, rs104894285, rs121918569, rs121918570, rs121918571, rs121918572, rs1257740588, rs1384545687, rs1199316807 View all (15 more)	RCV005432700 RCV005438140 RCV003317640 RCV004701001 RCV005433371 RCV002222473 RCV003234904 RCV004767006 RCV003230361 RCV003330387 RCV005430929 RCV004689417 RCV005240779 RCV005438178 RCV005407254 RCV004586278 RCV005407086 RCV000030393 RCV001731796 RCV003226392 RCV005430963 RCV003235027 RCV001804802 RCV002281904 RCV001731478 RCV003230391 RCV000780682 RCV005432570 RCV005432562 RCV004702616
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	Pathogenic; Likely pathogenic	rs1850837839, rs750055861, rs2133296385, rs749360497, rs182385524, rs1850812562, rs759401797, rs2133297434, rs2133298263, rs2133297485, rs1195475275, rs2133297611, rs1317208073, rs1389614116, rs1254739284 View all (103 more)	RCV002546796 RCV001385111 RCV001389760 RCV001385792 RCV001389162 RCV001449974 RCV001530177 RCV001530178 RCV003772142 RCV001970428 RCV002004080 RCV001956200 RCV001873926 RCV002266120 RCV003096337 RCV005042783 RCV002289209 RCV003037382 RCV003058302 RCV003062360 RCV003086218 RCV003227688 RCV003108847 RCV002824146 RCV002875626 RCV002917360 RCV003012541 RCV003029402 RCV003027260 RCV003030375 RCV003765454 RCV001854775 RCV003779861 RCV000282657 RCV003764567 RCV005042041 RCV001384043 RCV003764569 RCV000688686 RCV001386663 RCV001389160 RCV003764570 RCV001205083 RCV003764571 RCV002513032 RCV000820053 RCV000820844 RCV000801211 RCV003779078 RCV005051315 RCV003779079 RCV003779080 RCV005220720 RCV003779081 RCV003779082 RCV003779083 RCV003779084 RCV003785441 RCV003796011 RCV003785291 RCV003783574 RCV003779475 RCV003782587 RCV003787200 RCV003790463 RCV003806209 RCV003805632 RCV003805783 RCV003799199 RCV003797691 RCV003805332 RCV003803268 RCV003794810 RCV003800793 RCV003813650 RCV003813330 RCV003812533 RCV003810574 RCV003807233 RCV003805057 RCV003810226 RCV005040708 RCV000542154 RCV002466255 RCV005367367 RCV000696949 RCV000820376 RCV000526312 RCV001041560 RCV000695106 RCV001855959 RCV003768298 RCV000768299 RCV000817183 RCV000804696 RCV000817355 RCV001389161 RCV005859489 RCV002513782 RCV005859490 RCV000762842 RCV000559478 RCV000819860 RCV001235005 RCV000791763 RCV001594380 RCV002514309 RCV005042180 RCV003764744 RCV000548870 RCV001384587 RCV001070571 RCV001065315 RCV001065314 RCV001060735 RCV001070572 RCV003153929 RCV002557957 RCV002555953 RCV001242919 RCV001267787
Severe combined immunodeficiency, B cell-negative	Pathogenic; Likely pathogenic	rs28933392, rs104894282, rs104894283, rs104894285, rs121918572, rs1241698978	RCV000014021 RCV000014022 RCV000014023 RCV000014031 RCV000014047 RCV002279729
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs150739647	RCV005890409
Tumor predisposition syndrome 3	Likely pathogenic; Pathogenic	rs121918571	RCV005862711

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1564988767, rs1564989420, rs1564989610	-
Acute myeloid leukemia	Benign	rs4151047	RCV005892972
Adrenocortical carcinoma, hereditary	Benign	rs4151047	RCV005892973
Cataract 3 multiple types	Uncertain significance	rs1590703267	RCV003227860
Hepatocellular carcinoma	Uncertain significance	rs145772007	RCV005892971
Immunodeficiency 104	Benign	rs2227973, rs3740955	RCV001814976 RCV001814983
Microcephaly	Conflicting classifications of pathogenicity; Uncertain significance	rs146457887, rs1850837414	RCV001252744 RCV001252847
Pelizaeus-Merzbacher disease	Conflicting classifications of pathogenicity	rs749223640	RCV005863167
Primary ciliary dyskinesia	Uncertain significance	rs145772007	RCV001255281
Sarcoma	Benign	rs4151047	RCV005892974
Uterine corpus endometrial carcinoma	Benign	rs4151047	RCV005892975

Show/Hide Text Mining Associations (66)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis Juvenile	Associate	16504994
Arthritis Rheumatoid	Associate	19404965
Ataxia Telangiectasia	Associate	18701881
Atelosteogenesis type 2	Associate	34425224
Autism Spectrum Disorder	Associate	35773312
Autoimmune Diseases	Associate	24122031, 24290284, 26186701, 30307608, 31388879, 34664192
BCG Infection Generalized Familial	Associate	22424479
Brain Diseases	Associate	24333136
Chronic recurrent multifocal osteomyelitis	Associate	24122031
Common Variable Immunodeficiency	Associate	24996264, 25516070, 26186701
Communicable Diseases	Associate	20846960
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	30307608
Cytomegalovirus Infections	Associate	16276422
Disease	Inhibit	18299319
Disease	Associate	20846960
Eosinophilia	Associate	9630231
Evans Syndrome	Associate	30940614
Genetic Diseases Inborn	Associate	10606976, 24333136
Genetic Predisposition to Disease	Associate	11121059
Granuloma	Associate	18463379, 24122031
Granulomatous Disease Chronic	Associate	24122031, 33954879
Hematologic Diseases	Associate	16276422
Hepatitis B	Associate	11313270, 18701881
Immune Dysregulation Polyendocrinopathy Enteropathy X Linked Syndrome	Associate	33864888
Immune System Diseases	Associate	19898481, 27301863, 31388879, 36732712
Immunologic Deficiency Syndromes	Associate	16276422, 18463379, 24122031, 24666246, 25516070, 26186701, 30307608, 31388879, 31503426
Immunologic Deficiency Syndromes	Inhibit	34664192
Infections	Associate	23755767, 36732712
Inflammation	Associate	34425224, 34664192
Job Syndrome	Associate	34418894
Leiomyoma	Associate	36948524
Leukemia	Associate	34982829, 8391873
Leukemia B Cell	Associate	34622798
Leukemia Lymphocytic Chronic B Cell	Stimulate	27198500
Lupus Erythematosus Systemic	Associate	12115231
Lymphedema	Associate	8731104
Lymphoma	Associate	8391873
Lymphoma B Cell	Associate	7494341
Lymphoma Non Hodgkin	Associate	16857995
Lymphopenia	Associate	16276422, 26186701, 36732712
Multiple Sclerosis	Associate	24122031
Mycobacterium Infections Nontuberculous	Associate	33954879
Myelodysplastic Syndromes	Associate	31503426
Myelodysplastic Syndromes	Inhibit	36166051
Neointima	Associate	24290284
Neoplasms	Associate	17511028, 21655267, 24853685, 36948524
Neutropenia	Associate	24333136, 24996264
Opportunistic Infections	Associate	25516070
Pediatric acute onset neuropsychiatric syndrome	Associate	35773312
Pemphigus	Associate	32926429
Pneumonia	Associate	26186701
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	12446444, 33987955, 8391873
Primary Immunodeficiency Diseases	Associate	24290284, 25516070, 30940614, 34622798
Recombinant chromosome 8 syndrome	Inhibit	24418478
Recombinant chromosome 8 syndrome	Associate	32655540
Severe Combined Immunodeficiency	Associate	10606976, 10777560, 10891452, 11121059, 11313270, 11359901, 11520796, 15845893, 16211094, 16276422, 18701881, 19912631, 20846960, 24290284, 24333136 View all (22 more)
Sinusitis	Associate	26186701
Tertiary Lymphoid Structures	Associate	11160277
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	34982829
Thymic epithelial tumor	Associate	30832724
Thyroid Cancer Papillary	Associate	21909078
Uniparental Disomy	Associate	31503426
Urinary Bladder Neoplasms	Associate	16465622
Vasculitis Leukocytoclastic Cutaneous	Associate	26186701
Waldenstrom Macroglobulinemia	Associate	27301862
X Linked Combined Immunodeficiency Diseases	Associate	16211094, 16276422, 21625022, 22424479, 23755767, 24122031, 24418478, 25516070, 26186701, 28083621, 29051008, 30307608, 32655540, 32691468, 34052995, 36279417 View all (1 more)

RAG1 (recombination activating 1)