Research
Tag

Skin

22 genetic variants with this tag.

RSID Gene Description Category
rs10794648 IFNLR1/GRHL3 Intergenic regulatory variant near IFNLR1 that contacts GRHL3 via chromatin l... Interferon Signaling & Systemic Autoimmune Moderate
rs11652075 CARD14 CARD14 Arg820Trp (R820W) Missense variant in the keratinocyte NF-κB scaffold protein CARD14 that modes... Psoriasis & Spondyloarthropathy Strong
rs12188300 IL12B Near-gene variant at the IL12B locus associated with psoriasis risk through a... Psoriasis & Spondyloarthropathy Moderate
rs12191877 HLA-C Tag for *06:02 Tag SNP for HLA-C*06:02, the strongest genetic risk factor for psoriasis, det... Psoriasis & Spondyloarthropathy Established
rs115161931 CTSS Independent CTSS-locus GWAS signal for atopic dermatitis on chromosome 1q21.3... Allergy & Atopic Disease Moderate
rs17728338 TNIP1 TNIP1/ABIN1 variant Intergenic regulatory variant near TNIP1 whose A allele reduces ABIN1-mediate... Psoriasis & Spondyloarthropathy Strong
rs2066808 IL23A Intronic variant near IL23A encoding the IL-23 p19 subunit; G allele increase... Psoriasis & Spondyloarthropathy Strong
rs2256774 IL2RA Intronic IL2RA variant that modulates soluble IL-2RA shedding and Treg signal... Autoimmune Tolerance & T-Cell Regulation Moderate
rs12123821 FLG Filaggrin skin barrier variant Common regulatory variant in the FLG locus associated with impaired skin barr... Allergy & Atopic Disease Strong
rs3212227 IL12B 3'UTR IL12B 3'-UTR variant forming the canonical two-SNP psoriasis risk haplotype w... Psoriasis & Spondyloarthropathy Strong
rs3213094 IL12B Promoter-region Intronic IL12B variant in linkage with the promoter-regulatory haplotype; T a... Psoriasis & Spondyloarthropathy Moderate
rs3805435 TNIP1 Intronic variant in the GPX3/TNIP1 regulatory locus on chromosome 5; the C al... Psoriasis & Spondyloarthropathy Moderate
rs610604 TNFAIP3 Intronic variant in TNFAIP3 whose G allele is the primary psoriasis susceptib... Psoriasis & Spondyloarthropathy Strong
rs1420101 IL1RL1 Intronic regulatory variant in IL1RL1 that lowers soluble ST2 (sST2) decoy re... Allergy & Atopic Disease Strong
rs61751629 CARD14 Glu422Lys Rare missense variant in the keratinocyte NF-κB scaffold protein CARD14 that ... Psoriasis & Spondyloarthropathy Emerging
rs146527530 CTSS CTSS AD Risk Signal (Budu-Aggrey 2023) Third independent CTSS-locus atopic dermatitis risk signal from the Budu-Aggr... Allergy & Atopic Disease Moderate
rs6887695 IL12B Upstream regulatory Upstream regulatory variant ~60 kb 5' of IL12B, forming the canonical two-SNP... Psoriasis & Spondyloarthropathy Strong
rs7746808 IL23A Intergenic variant near the IL23A locus associated with psoriasis and psoriat... Psoriasis & Spondyloarthropathy Emerging
rs187080438 CTSS Cathepsin S antigen presentation variant Intronic variant in the CTSS locus associated with elevated atopic dermatitis... Allergy & Atopic Disease 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 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 Moderate
rs7927894 EMSY Regulatory variant near the EMSY/C11orf30 locus; T allele increases EMSY expr... Allergy & Atopic Disease Strong