Tag

Skin Health

57 genetic variants with this tag.

RSID	Gene	Description	Category
rs121434287	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the intestinal zinc transporter ZIP4, causing ...	Iron & Mineral Transport	Skin Health	Established
rs10794648	IFNLR1/GRHL3	Intergenic regulatory variant near IFNLR1 that contacts GRHL3 via chromatin l...	Interferon Signaling & Systemic Autoimmune	Skin Health	Moderate
rs121434289	SLC39A4 Gly374Arg	Missense variant in ZIP4 zinc transporter causing total loss of intestinal zi...	Iron & Mineral Transport	Skin Health	Established
rs12191877	HLA-C Tag for *06:02	Tag SNP for HLA-C*06:02, the strongest genetic risk factor for psoriasis, det...	Psoriasis & Spondyloarthropathy	Skin Health	Established
rs11079788	TBX21 TBX21 Regulatory Variant	Intronic regulatory variant in TBX21 that influences T-bet expression and Th1...	Allergy & Atopic Disease	Skin Health	Emerging
rs121434292	SLC39A4 Arg95Cys	Pathogenic missense variant in ZIP4, the primary intestinal zinc transporter,...	Iron & Mineral Transport	Skin Health	Established
rs11204971	FLG FLG locus regulatory variant	Regulatory tag SNP in the filaggrin (FLG) locus associated with reduced FLG e...	Allergy & Atopic Disease	Skin Health	Moderate
rs17881320	STAT3 JAK-STAT3 Signaling Variant	Intronic STAT3 variant associated with increased atopic dermatitis risk (OR=1...	TNF, NF-kB & Inflammatory Cytokines	Skin Health	Strong
rs150597413	FLG S3247X	Nonsense variant eliminating filaggrin protein — a minor European FLG null al...	Skin & Eyes	Skin Health	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	Skin Health	Moderate
rs115161931	CTSS	Independent CTSS-locus GWAS signal for atopic dermatitis on chromosome 1q21.3...	Allergy & Atopic Disease	Skin Health	Moderate
rs200482978	SLC39A4	Pathogenic nonsense variant in the intestinal zinc transporter ZIP4, creating...	Iron & Mineral Transport	Skin Health	Established
rs17728338	TNIP1 TNIP1/ABIN1 variant	Intergenic regulatory variant near TNIP1 whose A allele reduces ABIN1-mediate...	Psoriasis & Spondyloarthropathy	Skin Health	Strong
rs1805007	MC1R R151C	Strongest "R" allele in the melanocortin-1 receptor, shifting pigment from ph...	Skin & Eyes	Skin Health	Established
rs182506368	SLC39A4 SLC39A4 p.Ala99Thr	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Vitamins & Nutrient Absorption	Skin Health	Established
rs12123821	FLG Filaggrin skin barrier variant	Common regulatory variant in the FLG locus associated with impaired skin barr...	Allergy & Atopic Disease	Skin Health	Strong
rs3126085	FLG	Intronic regulatory variant in the filaggrin gene locus that reduces FLG expr...	Skin & Eyes	Skin Health	Strong
rs12133641	IL6R IL-6 receptor intronic variant	Deep intronic IL6R variant associated with atopic dermatitis risk and systemi...	Allergy & Atopic Disease	Skin Health	Strong
rs12251307	IL2RA IL-2 receptor alpha chain variant	Intergenic variant 19 kb downstream of IL2RA associated with atopic dermatiti...	Allergy & Atopic Disease	Skin Health	Strong
rs397507563	FLG 3702delG	Frameshift deletion in the third filaggrin repeat domain — the third most com...	Skin & Eyes	Skin Health	Established
rs558269137	FLG 2282del4	Frameshift deletion eliminating filaggrin protein, the second most common Eur...	Skin & Eyes	Skin Health	Established
rs33980500	TRAF3IP2 D10N	Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b...	Psoriasis & Spondyloarthropathy	Skin Health	Strong
rs61816761	FLG R501X	Nonsense variant eliminating filaggrin protein, the major genetic risk factor...	Skin & Eyes	Skin Health	Established
rs1295685	IL13	3'-UTR regulatory variant in IL13 that influences IL-13 mRNA stability and ex...	Allergy & Atopic Disease	Skin Health	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	Skin Health	Strong
rs4406273	HLA-C	Near-HLA-C intergenic variant that tags HLA-C*06:02 haplotype, conferring ris...	Psoriasis & Spondyloarthropathy	Skin Health	Strong
rs146527530	CTSS CTSS AD Risk Signal (Budu-Aggrey 2023)	Third independent CTSS-locus atopic dermatitis risk signal from the Budu-Aggr...	Allergy & Atopic Disease	Skin Health	Moderate
rs167769	STAT6	Intronic variant in STAT6 (intron 2) that forms a functional haplotype with r...	Allergy & Atopic Disease	Skin Health	Strong
rs4696480	TLR2 T-16934A	Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, asso...	Innate Immunity & Infection Defense	Skin Health	Moderate
rs17250932	TBX21 TBX21 Promoter Variant	Upstream promoter variant in TBX21 that reduces neonatal IL-5 and IL-13 secre...	Allergy & Atopic Disease	Skin Health	Emerging
rs1800925	IL13 -1112C>T	Promoter variant that selectively increases IL-13 expression in Th2 lymphocyt...	Allergy & Atopic Disease	Skin Health	Strong
rs5743708	TLR2 R753Q	Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to...	Innate Immunity & Infection Defense	Skin Health	Strong
rs1801275	IL4R Q576R	Gain-of-function missense variant in the IL-4 receptor alpha chain that ampli...	Allergy & Atopic Disease	Skin Health	Strong
rs1805011	IL4R IL4R Glu375Ala	Missense variant in the extracellular domain of the IL-4 receptor alpha chain...	Allergy & Atopic Disease	Skin Health	Moderate
rs187080438	CTSS Cathepsin S antigen presentation variant	Intronic variant in the CTSS locus associated with elevated atopic dermatitis...	Allergy & Atopic Disease	Skin Health	Moderate
rs1898671	TSLP TSLP Intronic Variant (Atopic Dermatitis)	Intronic TSLP variant that modulates thymic stromal lymphopoietin activity, w...	Allergy & Atopic Disease	Skin 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	Skin Health	Moderate
rs20541	IL13 R130Q	Missense variant in IL-13 that enhances Th2 cytokine signaling, elevating ser...	Allergy & Atopic Disease	Skin Health	Strong
rs2070874	IL4 IL4 C-33T	5'-UTR variant 33 bases downstream of the IL-4 transcription start site; the ...	Allergy & Atopic Disease	Skin Health	Strong
rs2158177	TH2LCRR RAD50/IL13 Region Variant	Intronic variant in TH2LCRR, a long noncoding RNA residing in the 5q31.1 RAD5...	Allergy & Atopic Disease	Skin Health	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	Skin Health	Moderate
rs2303065	SPINK5 SPINK5 His396His (c.1188T>C)	Synonymous variant in SPINK5 exon 13 that tags the same risk haplotype as the...	Allergy & Atopic Disease	Skin Health	Moderate
rs2303067	SPINK5 SPINK5 Lys420Glu	Missense variant in SPINK5 encoding LEKTI domain 6 (p.Lys420Glu) that increas...	Allergy & Atopic Disease	Skin Health	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	Skin Health	Strong
rs3024971	STAT6	Intronic variant in STAT6 near the 3' end of the gene that modulates STAT6 mR...	Allergy & Atopic Disease	Skin Health	Moderate
rs324011	STAT6	Intronic variant in STAT6 (intron 2) that creates an NF-κB binding site, incr...	Allergy & Atopic Disease	Skin Health	Strong
rs324013	STAT6	Promoter variant in STAT6 that alters transcription factor binding; the T all...	Allergy & Atopic Disease	Skin Health	Moderate
rs3806933	TSLP	Functional promoter variant in TSLP that creates an AP-1 transcription factor...	Allergy & Atopic Disease	Skin Health	Moderate
rs6062486	RTEL1 Telomere helicase immune variant	Intronic variant in RTEL1 (regulator of telomere elongation helicase 1) assoc...	Allergy & Atopic Disease	Skin Health	Strong
rs61816766	FLG Filaggrin second variant	Intronic FLG-locus variant strongly associated with atopic dermatitis — the C...	Allergy & Atopic Disease	Skin Health	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	Skin Health	Moderate
rs7130588	LRRC32	Regulatory variant near LRRC32 (GARP) on chromosome 11q13.5; the G allele inc...	Allergy & Atopic Disease	Skin Health	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	Skin Health	Strong
rs7927894	EMSY	Regulatory variant near the EMSY/C11orf30 locus; T allele increases EMSY expr...	Allergy & Atopic Disease	Skin Health	Strong
rs7927997	EMSY EMSY/C11orf30 Atopy Regulatory Variant	Regulatory variant near C11orf30 (EMSY) on chromosome 11q13.5; the T allele r...	Allergy & Atopic Disease	Skin Health	Strong
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	Skin Health	Moderate
rs992969	IL33	Regulatory variant upstream of IL33 encoding interleukin-33; the A allele inc...	Allergy & Atopic Disease	Skin Health	Strong