Tag

Asthma

94 genetic variants with this tag.

RSID	Gene	Description	Category
rs10206753	IL1RL1 IL1RL1 TIR Domain Risk Haplotype	Missense variant in IL1RL1 encoding the Leu551Ser amino acid change in the in...	Allergy & Atopic Disease	Asthma	Strong
rs1042713	ADRB2 Arg16Gly	Beta-2 adrenergic receptor variant affecting receptor downregulation, exercis...	Fitness & Body	Asthma	Strong
rs10208293	IL1RL1	Intronic IL1RL1 variant tagging an independent regulatory signal at the ST2 l...	Allergy & Atopic Disease	Asthma	Moderate
rs10399931	CHI3L1 CHI3L1 eQTL Partner Variant	Upstream regulatory variant in the CHI3L1 YKL-40 quantitative trait locus; th...	Allergy & Atopic Disease	Asthma	Moderate
rs10751659	PRG3 PRG3 Eosinophil Major Basic Protein Homologue Variant	Intronic variant in the PRG3 gene encoding eosinophil major basic protein hom...	Allergy & Atopic Disease	Asthma	Emerging
rs11071559	RORA	Intronic variant in the circadian clock regulator RORA; the T allele is prote...	Allergy & Atopic Disease	Asthma	Moderate
rs11079788	TBX21 TBX21 Regulatory Variant	Intronic regulatory variant in TBX21 that influences T-bet expression and Th1...	Allergy & Atopic Disease	Asthma	Emerging
rs114947103	CDHR3 CDHR3 intronic variant	Intronic CDHR3 variant in high linkage disequilibrium with the C529Y function...	Innate Immunity & Infection Defense	Asthma	Moderate
rs11204971	FLG FLG locus regulatory variant	Regulatory tag SNP in the filaggrin (FLG) locus associated with reduced FLG e...	Allergy & Atopic Disease	Asthma	Moderate
rs150597413	FLG S3247X	Nonsense variant eliminating filaggrin protein — a minor European FLG null al...	Skin & Eyes	Asthma	Strong
rs11236797	LRRC32	Regulatory variant in a distal enhancer at 11q13.5 that controls GARP express...	Allergy & Atopic Disease	Asthma	Strong
rs11466750	TSLP 3'UTR Splice Variant	3'UTR variant in TSLP that acts as an eQTL driving higher TSLP mRNA expressio...	Allergy & Atopic Disease	Asthma	Moderate
rs1154404	ADH5 ADH5 Asthma Risk Haplotype Variant	Intronic variant in ADH5 (GSNOR) in near-complete LD (r²=0.99) with adjacent ...	Allergy & Atopic Disease	Asthma	Moderate
rs11650354	TBX21 TBX21 Region Variant	Intronic variant in TBX21 that forms a risk haplotype with rs16947078; the T ...	Allergy & Atopic Disease	Asthma	Strong
rs11650680	ORMDL3 ORMDL3 17q21 asthma susceptibility	Intronic regulatory variant in the ORMDL3 17q21 haploblock; the C allele driv...	Allergy & Atopic Disease	Asthma	Strong
rs11657479	TBX21 TBX21 3' UTR Variant	A 3' UTR variant in TBX21 (c.*169T>C) that modulates T-bet expression; the C ...	Allergy & Atopic Disease	Asthma	Moderate
rs12123821	FLG Filaggrin skin barrier variant	Common regulatory variant in the FLG locus associated with impaired skin barr...	Allergy & Atopic Disease	Asthma	Strong
rs2569190	CD14 -159C>T	Promoter variant affecting CD14 expression and LPS receptor signaling — deter...	Innate Immunity & Infection Defense	Asthma	Strong
rs12141494	CHI3L1 CHI3L1 Intron 6 Variant	Intronic variant in CHI3L1 (intron 6) independently associated with asthma se...	Allergy & Atopic Disease	Asthma	Moderate
rs397507563	FLG 3702delG	Frameshift deletion in the third filaggrin repeat domain — the third most com...	Skin & Eyes	Asthma	Established
rs12368672	STAT6 STAT6 intronic variant	Deep intronic variant in STAT6 that modulates IL-4/IL-13 signal transduction;...	Allergy & Atopic Disease	Asthma	Moderate
rs12551256	IL33 IL33 protective asthma variant	Intronic IL33 variant where the G allele is negatively associated with asthma...	Allergy & Atopic Disease	Asthma	Emerging
rs12551268	IL33 IL33 asthma-protective variant	Intronic IL33 variant where A-allele carriers showed a protective trend again...	Allergy & Atopic Disease	Asthma	Emerging
rs558269137	FLG 2282del4	Frameshift deletion eliminating filaggrin protein, the second most common Eur...	Skin & Eyes	Asthma	Established
rs12936231	ORMDL3 ORMDL3 17q21 eQTL	Regulatory tagging SNP in the 17q21 asthma locus that is the strongest eQTL f...	Allergy & Atopic Disease	Asthma	Strong
rs12946510	IKZF3 IKZF3 17q21 FOXO1-enhancer variant	Regulatory variant in a FOXO1-binding enhancer element flanking the IKZF3 gen...	Allergy & Atopic Disease	Asthma	Strong
rs61816761	FLG R501X	Nonsense variant eliminating filaggrin protein, the major genetic risk factor...	Skin & Eyes	Asthma	Established
rs1295685	IL13	3'-UTR regulatory variant in IL13 that influences IL-13 mRNA stability and ex...	Allergy & Atopic Disease	Asthma	Moderate
rs1295686	IL13 IL-13 Atopy Promoter Variant	Intronic variant in IL13 that tags the atopic risk haplotype; the minor T all...	Allergy & Atopic Disease	Asthma	Strong
rs13408661	IL1RL1	Intronic variant in IL1RL1 (encoding the ST2 receptor for IL-33) tagging hapl...	Allergy & Atopic Disease	Asthma	Moderate
rs1342326	IL33 IL33 regulatory variant	Regulatory variant upstream of IL33; the C allele elevates IL-33 expression, ...	Allergy & Atopic Disease	Asthma	Strong
rs13424006	IL1RL1	Intronic IL1RL1 variant in the 10th intron of the ST2 receptor gene; C allele...	Allergy & Atopic Disease	Asthma	Moderate
rs1420101	IL1RL1	Intronic regulatory variant in IL1RL1 that lowers soluble ST2 (sST2) decoy re...	Allergy & Atopic Disease	Asthma	Strong
rs146597587	IL33	Rare splice acceptor variant that abolishes IL-33/ST2 signalling; the C allel...	Allergy & Atopic Disease	Asthma	Strong
rs167769	STAT6	Intronic variant in STAT6 (intron 2) that forms a functional haplotype with r...	Allergy & Atopic Disease	Asthma	Strong
rs16947078	TBX21 TBX21 T-bet asthma variant	Intergenic regulatory variant near TBX21 associated with allergic asthma susc...	Allergy & Atopic Disease	Asthma	Strong
rs4696480	TLR2 T-16934A	Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, asso...	Innate Immunity & Infection Defense	Asthma	Moderate
rs17250932	TBX21 TBX21 Promoter Variant	Upstream promoter variant in TBX21 that reduces neonatal IL-5 and IL-13 secre...	Allergy & Atopic Disease	Asthma	Emerging
rs17293632	SMAD3	Intronic regulatory variant in SMAD3 that alters TGF-beta effector signaling ...	Allergy & Atopic Disease	Asthma	Strong
rs9807989	IL18R1	Upstream regulatory variant of IL18R1 on chromosome 2q12; the T risk allele i...	TNF, NF-kB & Inflammatory Cytokines	Asthma	Moderate
rs17699436	TBX21 TBX21 Downstream Regulatory Variant	Intergenic variant 5 kb downstream of TBX21 (encoding the T-bet transcription...	Allergy & Atopic Disease	Asthma	Moderate
rs1800925	IL13 -1112C>T	Promoter variant that selectively increases IL-13 expression in Th2 lymphocyt...	Allergy & Atopic Disease	Asthma	Strong
rs1801275	IL4R Q576R	Gain-of-function missense variant in the IL-4 receptor alpha chain that ampli...	Allergy & Atopic Disease	Asthma	Strong
rs1805010	IL4R Ile75Val	Missense variant in the extracellular domain of the IL-4 receptor alpha chain...	Allergy & Atopic Disease	Asthma	Moderate
rs1805011	IL4R IL4R Glu375Ala	Missense variant in the extracellular domain of the IL-4 receptor alpha chain...	Allergy & Atopic Disease	Asthma	Moderate
rs1837253	TSLP Upstream Variant	Upstream regulatory variant in TSLP reducing cytokine expression; the protect...	Allergy & Atopic Disease	Asthma	Strong
rs1885013	RAD51B RAD51B Rheumatoid Arthritis Variant	Intronic variant in RAD51B (RAD51 paralog B), a DNA double-strand break repai...	Allergy & Atopic Disease	Asthma	Moderate
rs1898671	TSLP TSLP Intronic Variant (Atopic Dermatitis)	Intronic TSLP variant that modulates thymic stromal lymphopoietin activity, w...	Allergy & Atopic Disease	Asthma	Moderate
rs2040704	RAD50 RAD50/IL13 5q31 Atopic March Locus	Intronic variant in the RAD50/TH2LCRR region at 5q31.1 that tags an enhancer ...	Allergy & Atopic Disease	Asthma	Moderate
rs20541	IL13 R130Q	Missense variant in IL-13 that enhances Th2 cytokine signaling, elevating ser...	Allergy & Atopic Disease	Asthma	Strong
rs2069705	IFNG IFNG Promoter -1616C/T	Upstream regulatory variant ~1,616 bp before the IFNG transcription start sit...	Allergy & Atopic Disease	Asthma	Moderate
rs2070874	IL4 IL4 C-33T	5'-UTR variant 33 bases downstream of the IL-4 transcription start site; the ...	Allergy & Atopic Disease	Asthma	Strong
rs2158177	TH2LCRR RAD50/IL13 Region Variant	Intronic variant in TH2LCRR, a long noncoding RNA residing in the 5q31.1 RAD5...	Allergy & Atopic Disease	Asthma	Moderate
rs2227284	IL4 IL4 T+2979G	Intronic regulatory variant in IL-4, the master Th2 cytokine; the T allele im...	Allergy & Atopic Disease	Asthma	Moderate
rs2228145	IL6R Asp358Ala	Missense variant in the IL-6 receptor that increases receptor shedding and en...	Allergy & Atopic Disease	Asthma	Strong
rs2240032	RAD50 RAD50 RHS7 TH2-LCR Variant	Intronic RAD50 variant in the Th2 locus control region (RHS7); T allele alter...	Allergy & Atopic Disease	Asthma	Moderate
rs2243250	IL4 IL4 -589C>T	Promoter polymorphism 589 bases upstream of the IL-4 transcription start site...	Allergy & Atopic Disease	Asthma	Strong
rs2243290	IL4 IL4 Intron 3 Protective Haplotype Variant	Intronic IL4 variant that forms part of the protective C-G-C haplotype (rs224...	Allergy & Atopic Disease	Asthma	Moderate
rs2244012	RAD50 RAD50 Intron 2 Variant	Intronic variant in RAD50 on chromosome 5q31.1 that was the top GWAS hit for ...	Allergy & Atopic Disease	Asthma	Moderate
rs2297839	CHI3L1 CHI3L1 Intron Variant	Intronic variant in CHI3L1 associated with circulating YKL-40 levels and modu...	Allergy & Atopic Disease	Asthma	Emerging
rs2303065	SPINK5 SPINK5 His396His (c.1188T>C)	Synonymous variant in SPINK5 exon 13 that tags the same risk haplotype as the...	Allergy & Atopic Disease	Asthma	Moderate
rs2303067	SPINK5 SPINK5 Lys420Glu	Missense variant in SPINK5 encoding LEKTI domain 6 (p.Lys420Glu) that increas...	Allergy & Atopic Disease	Asthma	Moderate
rs2305480	GSDMB GSDMB Pro311Ser protective haplotype	Missense variant in gasdermin B that increases GSDMB expression and pyroptoti...	Allergy & Atopic Disease	Asthma	Strong
rs2602899	ADH5 ADH5 Promoter NF-kB Variant	Regulatory SNP in the ADH5 promoter at a potential NF-kB binding site; the pr...	Allergy & Atopic Disease	Asthma	Moderate
rs2851301	ADH5 ADH5 Second NF-kB Site Variant	Upstream promoter variant in ADH5 at a potential NF-kB binding site; the mino...	Allergy & Atopic Disease	Asthma	Emerging
rs2872507	IKZF3	17q21 regulatory variant in the IKZF3-ORMDL3-GSDMB locus with opposite effect...	Allergy & Atopic Disease	Asthma	Strong
rs28730619	ADH5	Intronic variant in ADH5 (GSNOR) associated with elevated childhood asthma ri...	Allergy & Atopic Disease	Asthma	Moderate
rs2967677	CERS4 Ceramide synthase 4 locus variant	A 3'UTR variant in the CERS4/NFILZ locus on chromosome 19 associated with ato...	Allergy & Atopic Disease	Asthma	Strong
rs3024971	STAT6	Intronic variant in STAT6 near the 3' end of the gene that modulates STAT6 mR...	Allergy & Atopic Disease	Asthma	Moderate
rs324011	STAT6	Intronic variant in STAT6 (intron 2) that creates an NF-κB binding site, incr...	Allergy & Atopic Disease	Asthma	Strong
rs324013	STAT6	Promoter variant in STAT6 that alters transcription factor binding; the T all...	Allergy & Atopic Disease	Asthma	Moderate
rs35699176	ZNF77 ZNF77 Q100*	Nonsense variant truncating ZNF77 at codon 100, impairing bronchial epithelia...	Allergy & Atopic Disease	Asthma	Emerging
rs3771166	IL1RL1/IL18R1	GABRIEL Consortium lead GWAS SNP at the IL1RL1/IL18R1 locus on chromosome 2q1...	Allergy & Atopic Disease	Asthma	Strong
rs3771175	IL1RL1 IL1RL1 receptor variant	A 3'-UTR variant in IL1RL1 (the ST2 receptor gene); the A allele increases ST...	Allergy & Atopic Disease	Asthma	Moderate
rs3806933	TSLP	Functional promoter variant in TSLP that creates an AP-1 transcription factor...	Allergy & Atopic Disease	Asthma	Moderate
rs3939286	IL33 IL33 intronic asthma variant	Regulatory variant ~5 kb upstream of IL33; the T allele is associated with in...	Allergy & Atopic Disease	Asthma	Strong
rs4129267	IL6R IL6R intronic multi-trait variant	Intronic IL6R variant in perfect linkage disequilibrium with the functional A...	Allergy & Atopic Disease	Asthma	Strong
rs4794067	TBX21 TBX21 T-bet Promoter -1993T>C	Promoter variant ~1993 bp upstream of TBX21 (encoding the T-bet master transc...	Allergy & Atopic Disease	Asthma	Moderate
rs4950928	CHI3L1 YKL-40 Promoter Variant (-131C>G)	Promoter variant controlling YKL-40 (chitinase 3-like 1) expression; the comm...	Allergy & Atopic Disease	Asthma	Strong
rs61816766	FLG Filaggrin second variant	Intronic FLG-locus variant strongly associated with atopic dermatitis — the C...	Allergy & Atopic Disease	Asthma	Strong
rs6589702	PRG2 PRG2 Eosinophil Major Basic Protein Variant	Intergenic regulatory variant near the PRG2/PRG3 eosinophil granule protein c...	Allergy & Atopic Disease	Asthma	Emerging
rs6967330	CDHR3 C529Y	Missense variant in the rhinovirus-C receptor CDHR3 that increases cell-surfa...	Allergy & Atopic Disease	Asthma	Strong
rs7125552	EMSY EMSY Haplotype Partner Allergy Variant	Intronic EMSY variant that defines the high-risk haplotype at 11q13.5; the G ...	Allergy & Atopic Disease	Asthma	Moderate
rs7130588	LRRC32	Regulatory variant near LRRC32 (GARP) on chromosome 11q13.5; the G allele inc...	Allergy & Atopic Disease	Asthma	Strong
rs71625130	SNX27 1q21.3 T-cell signaling / Th17 locus variant	Intronic SNX27 variant at the 1q21.3 GWAS locus that increases atopic dermati...	Allergy & Atopic Disease	Asthma	Strong
rs7216389	GSDMB ORMDL3 17q21 asthma risk	Intronic GSDMB variant that acts as an eQTL for ORMDL3; the T allele elevates...	Allergy & Atopic Disease	Asthma	Established
rs72823628	IL1RL1	Intronic variant in the IL1RL1/IL18R1 receptor gene cluster on chromosome 2q1...	Allergy & Atopic Disease	Asthma	Moderate
rs7927894	EMSY	Regulatory variant near the EMSY/C11orf30 locus; T allele increases EMSY expr...	Allergy & Atopic Disease	Asthma	Strong
rs7927997	EMSY EMSY/C11orf30 Atopy Regulatory Variant	Regulatory variant near C11orf30 (EMSY) on chromosome 11q13.5; the T allele r...	Allergy & Atopic Disease	Asthma	Strong
rs8111930	MRPL4 MRPL4 Atopy-Associated Intronic Variant	Intronic variant in MRPL4 on chromosome 19p13.2 that alters transcription fac...	Allergy & Atopic Disease	Asthma	Moderate
rs872129	CHI3L1 CHI3L1 eQTL Variant	Third independent eQTL signal at the CHI3L1/YKL-40 locus on chromosome 1q32.1...	Allergy & Atopic Disease	Asthma	Moderate
rs8832	IL4R IL4R 3'UTR Asthma Exacerbation Variant	3' untranslated region variant in the IL-4 receptor alpha chain gene; the G a...	Allergy & Atopic Disease	Asthma	Moderate
rs950881	IL1RL1 IL1RL1 intronic variant	Intronic variant in the IL1RL1 gene on chromosome 2q12 encoding the ST2 recep...	Allergy & Atopic Disease	Asthma	Moderate
rs992969	IL33	Regulatory variant upstream of IL33 encoding interleukin-33; the A allele inc...	Allergy & Atopic Disease	Asthma	Strong