Tag

Lung Health

47 genetic variants with this tag.

RSID	Gene	Description	Category
rs10208293	IL1RL1	Intronic IL1RL1 variant tagging an independent regulatory signal at the ST2 l...	Allergy & Atopic Disease	Lung Health	Moderate
rs10399931	CHI3L1 CHI3L1 eQTL Partner Variant	Upstream regulatory variant in the CHI3L1 YKL-40 quantitative trait locus; th...	Allergy & Atopic Disease	Lung Health	Moderate
rs1051730	CHRNA3 Tyr215Tyr	CHRNA3 synonymous variant in the nicotinic receptor gene cluster strongly ass...	Mood & Behavior	Lung Health	Established
rs11466750	TSLP 3'UTR Splice Variant	3'UTR variant in TSLP that acts as an eQTL driving higher TSLP mRNA expressio...	Allergy & Atopic Disease	Lung Health	Moderate
rs121908677	SLC7A7 SLC7A7 p.Gly54Val	Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; ho...	Metabolic Enzymes & Rare Disorders	Lung Health	Established
rs1154404	ADH5 ADH5 Asthma Risk Haplotype Variant	Intronic variant in ADH5 (GSNOR) in near-complete LD (r²=0.99) with adjacent ...	Allergy & Atopic Disease	Lung Health	Moderate
rs11650354	TBX21 TBX21 Region Variant	Intronic variant in TBX21 that forms a risk haplotype with rs16947078; the T ...	Allergy & Atopic Disease	Lung Health	Strong
rs11650680	ORMDL3 ORMDL3 17q21 asthma susceptibility	Intronic regulatory variant in the ORMDL3 17q21 haploblock; the C allele driv...	Allergy & Atopic Disease	Lung Health	Strong
rs28929454	SERPINA1	SERPINA1 intronic variant strongly associated with elevated mortality in ANCA...	B-Cell Immunity & Antibody-Mediated Disease	Lung Health	Emerging
rs146582474	SLC7A7	Finnish founder splice acceptor mutation abolishing y+LAT1 transport activity...	Metabolic Enzymes & Rare Disorders	Lung Health	Established
rs12141494	CHI3L1 CHI3L1 Intron 6 Variant	Intronic variant in CHI3L1 (intron 6) independently associated with asthma se...	Allergy & Atopic Disease	Lung Health	Moderate
rs12551256	IL33 IL33 protective asthma variant	Intronic IL33 variant where the G allele is negatively associated with asthma...	Allergy & Atopic Disease	Lung Health	Emerging
rs12551268	IL33 IL33 asthma-protective variant	Intronic IL33 variant where A-allele carriers showed a protective trend again...	Allergy & Atopic Disease	Lung Health	Emerging
rs2034650	IVD	Intronic regulatory variant in IVD (isovaleryl-CoA dehydrogenase) associated ...	Metabolic Enzymes & Rare Disorders	Lung Health	Emerging
rs12936231	ORMDL3 ORMDL3 17q21 eQTL	Regulatory tagging SNP in the 17q21 asthma locus that is the strongest eQTL f...	Allergy & Atopic Disease	Lung Health	Strong
rs12946510	IKZF3 IKZF3 17q21 FOXO1-enhancer variant	Regulatory variant in a FOXO1-binding enhancer element flanking the IKZF3 gen...	Allergy & Atopic Disease	Lung Health	Strong
rs13408661	IL1RL1	Intronic variant in IL1RL1 (encoding the ST2 receptor for IL-33) tagging hapl...	Allergy & Atopic Disease	Lung Health	Moderate
rs28929474	SERPINA1 Z allele (E342K)	Most common alpha-1 antitrypsin deficiency variant causing protein misfolding...	Metabolic Enzymes & Rare Disorders	Lung Health	Established
rs1342326	IL33 IL33 regulatory variant	Regulatory variant upstream of IL33; the C allele elevates IL-33 expression, ...	Allergy & Atopic Disease	Lung Health	Strong
rs7151526	SERPINA1	Regulatory variant downstream of SERPINA1 associated with increased susceptib...	B-Cell Immunity & Antibody-Mediated Disease	Lung Health	Moderate
rs13424006	IL1RL1	Intronic IL1RL1 variant in the 10th intron of the ST2 receptor gene; C allele...	Allergy & Atopic Disease	Lung Health	Moderate
rs397515563	DNAI1 DNAI1 IVS19+1G>A	Splice donor variant disrupting DNAI1 intron 19, causing in-frame deletion of...	Innate Immunity & Infection Defense	Lung Health	Strong
rs146597587	IL33	Rare splice acceptor variant that abolishes IL-33/ST2 signalling; the C allel...	Allergy & Atopic Disease	Lung Health	Strong
rs4648127	NFKB1 NFKB1 intronic variant	Rare protective intronic variant in the master immune transcription factor NF...	Innate Immunity & Infection Defense	Lung Health	Moderate
rs16947078	TBX21 TBX21 T-bet asthma variant	Intergenic regulatory variant near TBX21 associated with allergic asthma susc...	Allergy & Atopic Disease	Lung Health	Strong
rs66791338	IVD 5-bp IVD regulatory region indel	Intronic 5-bp indel (AAAGG) in the IVD regulatory region that is the primary ...	Metabolic Enzymes & Rare Disorders	Lung Health	Moderate
rs72552272	SLC7A7 L334R	Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lys...	Metabolic Enzymes & Rare Disorders	Lung Health	Established
rs1800925	IL13 -1112C>T	Promoter variant that selectively increases IL-13 expression in Th2 lymphocyt...	Allergy & Atopic Disease	Lung Health	Strong
rs1805010	IL4R Ile75Val	Missense variant in the extracellular domain of the IL-4 receptor alpha chain...	Allergy & Atopic Disease	Lung Health	Moderate
rs1837253	TSLP Upstream Variant	Upstream regulatory variant in TSLP reducing cytokine expression; the protect...	Allergy & Atopic Disease	Lung Health	Strong
rs7091565	ANXA11 ANXA11 rs7091565	3' UTR variant in ANXA11 (annexin A11) in strong LD with the functional R230C...	Innate Immunity & Infection Defense	Lung Health	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	Lung Health	Moderate
rs2158177	TH2LCRR RAD50/IL13 Region Variant	Intronic variant in TH2LCRR, a long noncoding RNA residing in the 5q31.1 RAD5...	Allergy & Atopic Disease	Lung Health	Moderate
rs2240032	RAD50 RAD50 RHS7 TH2-LCR Variant	Intronic RAD50 variant in the Th2 locus control region (RHS7); T allele alter...	Allergy & Atopic Disease	Lung Health	Moderate
rs2297839	CHI3L1 CHI3L1 Intron Variant	Intronic variant in CHI3L1 associated with circulating YKL-40 levels and modu...	Allergy & Atopic Disease	Lung Health	Emerging
rs2305480	GSDMB GSDMB Pro311Ser protective haplotype	Missense variant in gasdermin B that increases GSDMB expression and pyroptoti...	Allergy & Atopic Disease	Lung Health	Strong
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	Lung Health	Emerging
rs28730619	ADH5	Intronic variant in ADH5 (GSNOR) associated with elevated childhood asthma ri...	Allergy & Atopic Disease	Lung Health	Moderate
rs35699176	ZNF77 ZNF77 Q100*	Nonsense variant truncating ZNF77 at codon 100, impairing bronchial epithelia...	Allergy & Atopic Disease	Lung Health	Emerging
rs3771175	IL1RL1 IL1RL1 receptor variant	A 3'-UTR variant in IL1RL1 (the ST2 receptor gene); the A allele increases ST...	Allergy & Atopic Disease	Lung Health	Moderate
rs3806933	TSLP	Functional promoter variant in TSLP that creates an AP-1 transcription factor...	Allergy & Atopic Disease	Lung Health	Moderate
rs3939286	IL33 IL33 intronic asthma variant	Regulatory variant ~5 kb upstream of IL33; the T allele is associated with in...	Allergy & Atopic Disease	Lung Health	Strong
rs6967330	CDHR3 C529Y	Missense variant in the rhinovirus-C receptor CDHR3 that increases cell-surfa...	Allergy & Atopic Disease	Lung Health	Strong
rs7216389	GSDMB ORMDL3 17q21 asthma risk	Intronic GSDMB variant that acts as an eQTL for ORMDL3; the T allele elevates...	Allergy & Atopic Disease	Lung Health	Established
rs8111930	MRPL4 MRPL4 Atopy-Associated Intronic Variant	Intronic variant in MRPL4 on chromosome 19p13.2 that alters transcription fac...	Allergy & Atopic Disease	Lung Health	Moderate
rs872129	CHI3L1 CHI3L1 eQTL Variant	Third independent eQTL signal at the CHI3L1/YKL-40 locus on chromosome 1q32.1...	Allergy & Atopic Disease	Lung Health	Moderate
rs992969	IL33	Regulatory variant upstream of IL33 encoding interleukin-33; the A allele inc...	Allergy & Atopic Disease	Lung Health	Strong