Research
Tag

Neuroinflammation

36 genetic variants with this tag.

RSID Gene Description Category
rs1016140 CD58 Intronic CD58 variant with a dual role — the G allele increases T-cell activi... Neurology & Cognition Moderate
rs10984447 DBC1 DBC1 multiple sclerosis susceptibility variant Intronic variant in DBC1 (DBCCR1/BRINP1) at 9q33.1 associated with multiple s... TNF, NF-kB & Inflammatory Cytokines Moderate
rs10456100 KCNK5 Intronic variant near KCNK5 that reduces TASK2 potassium channel expression a... Neurology & Cognition Strong
rs142885915 NPSR1 NPSR1 Endometriosis Risk Variant An intronic insertion/deletion variant in the neuropeptide S receptor 1 gene ... Endometriosis & Uterine Health Moderate
rs12044852 CD58 Intronic CD58 variant in strong LD with rs2300747 (r²=0.929); the C allele dr... Neurology & Cognition Strong
rs12053868 IL1RAP IL1RAP amyloid risk variant Intronic variant in IL1RAP that impairs microglial activation, accelerating b... Neurology & Cognition Moderate
rs12459419 CD33 CD33 exon 2 splicing variant Coding variant in CD33 (Siglec-3) that alters exon 2 splicing in microglia — ... Neurology & Cognition Strong
rs17493811 AGER Tag SNP in the AGER 3′ downstream region associated with increased type 1 dia... Hormones & Sleep Moderate
rs12693542 SLC40A1 Regulatory variant upstream of ferroportin (the sole cellular iron exporter) ... Neurology & Cognition Strong
rs199347 GPNMB Intronic GPNMB variant that acts as a brain eQTL; the A allele increases GPNM... Longevity & Aging Strong
rs2069837 IL6 Intronic IL6 enhancer variant that regulates the anti-inflammatory gene GPNMB... Longevity & Aging Moderate
rs1335532 CD58 Intronic CD58 variant that sits inside the miR-548ac stem-loop; the A allele ... Neurology & Cognition Strong
rs1414273 CD58 Intronic CD58 variant hosting the miR-548ac stem-loop; the C allele creates a... Neurology & Cognition Strong
rs1532278 CLU CLU Alzheimer's risk variant Intronic regulatory variant in CLU (clusterin/apolipoprotein J) that controls... Neurology & Cognition Strong
rs1718119 P2RX7 Ala348Thr Gain-of-function variant in the P2X7 receptor that increases ATP-gated pore f... Neurology & Cognition Moderate
rs2070600 AGER Gly82Ser Missense variant in the AGER pattern-recognition receptor that reduces solubl... Hormones & Sleep Strong
rs1800693 TNFRSF1A Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking ... Neurology & Cognition Strong
rs2078371 TSPAN2 Regulatory variant in the TSPAN2/NGF locus on chromosome 1p13; the C allele i... Neurology & Cognition Strong
rs208294 P2RX7 His155Tyr Gain-of-function missense variant in the P2X7 ATP-gated receptor that increas... Neurology & Cognition Moderate
rs28362944 SERPING1 5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, re... Hormones & Sleep Moderate
rs2230912 P2RX7 Gln460Arg Missense variant in the C-terminal domain of the P2X7 receptor that disrupts ... Neurology & Cognition Moderate
rs2300747 CD58 Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg... Neurology & Cognition Strong
rs3816183 HAAO Ile37Val Missense variant in the kynurenine pathway enzyme HAAO that shifts tryptophan... Hormones & Sleep Moderate
rs3129934 HLA-DRB5 DR15 haplotype tag Tag SNP for HLA-DRB5*01:01 on the DR15 susceptibility haplotype, physically n... Neurology & Cognition Strong
rs3135388 HLA-DRA Tag for DRB1*15:01 Tag SNP for HLA-DRB1*15:01 (physically located near HLA-DRA), the strongest g... Neurology & Cognition Established
rs4926 SERPING1 Val480Met Missense variant in C1-inhibitor gene associated with insomnia risk through n... Hormones & Sleep Moderate
rs3751143 P2RX7 Glu496Ala Loss-of-function variant in the P2X7 receptor that reduces inflammatory respo... Neurology & Cognition Strong
rs3865444 CD33 CD33 microglial Alzheimer's variant Promoter-region variant that modulates CD33 expression on microglia — the pro... Neurology & Cognition Strong
rs4149584 TNFRSF1A R92Q Missense variant in TNF receptor 1 that causes low-penetrance TRAPS (recurren... Neurology & Cognition Strong
rs6656401 CR1 CR1 complement receptor Alzheimer's variant Intronic variant in the complement receptor 1 gene; the minor A allele impair... Neurology & Cognition Strong
rs75932628 TREM2 R47H Rare missense variant in microglial receptor TREM2 that significantly increas... Neurology & Cognition Established
rs76904798 LRRK2 5' Regulatory Variant Common noncoding variant upstream of LRRK2 that increases gene expression in ... Neurology & Cognition Strong
rs78117248 ABCA7 ABCA7 AD risk variant Intronic ABCA7 variant tagging an expanded VNTR that disrupts amyloid-beta cl... Neurology & Cognition Strong
rs7958311 P2RX7 Arg270His P2RX7 variant with a unique dual mechanism — gain-of-function in channel open... Neurology & Cognition Moderate
rs9271366 HLA-DQA1 eQTL Intergenic eQTL near HLA-DQA1 that tags the DR15 haplotype (DRB1*15:01/DQA1*0... Neurology & Cognition Established
rs9275328 HLA-DQB1 DQB1 region Intergenic SNP between HLA-DQB1 and HLA-DQA2 that tags the DQB1*06:02 allele,... Neurology & Cognition Strong