Research
Tag

Biomarkers

16 genetic variants with this tag.

RSID Gene Description Category
rs10399931 CHI3L1 CHI3L1 eQTL Partner Variant Upstream regulatory variant in the CHI3L1 YKL-40 quantitative trait locus; th... Allergy & Atopic Disease Moderate
rs1059369 GDF15 S48T GDF15 signal-peptide missense variant that tags a haplotype influencing circu... Fat Storage & Energy Moderate
rs104894503 TPM1 D175N (Asp175Asn) Pathogenic alpha-tropomyosin missense variant that increases thin filament ca... Cardiomyopathy & Structural Heart Established
rs104894654 DTNA P121L Missense variant in alpha-dystrobrevin disrupting the EF-hand calcium-binding... Cardiomyopathy & Structural Heart Emerging
rs13324341 MRAS Intronic MRAS variant that creates a MEF2 transcription factor binding site i... Coronary Artery Disease & Atherosclerosis Strong
rs12141494 CHI3L1 CHI3L1 Intron 6 Variant Intronic variant in CHI3L1 (intron 6) independently associated with asthma se... Allergy & Atopic Disease Moderate
rs193922385 MYBPC3 Arg177Cys A rare missense variant in the C1 immunoglobulin domain of cardiac myosin-bin... Cardiomyopathy & Structural Heart Emerging
rs2016105 ELK3 ELK3 TSH regulatory variant Intronic regulatory variant in ELK3 influencing circulating TSH levels and hy... Hormones & Sleep Strong
rs397507174 BTD BTD Tyr190Cys Pathogenic missense variant in biotinidase that abolishes biotin recycling; h... Vitamins & Nutrient Absorption Established
rs3091244 CRP -286C>T>A Triallelic promoter variant that strongly influences basal CRP transcription;... Vascular Inflammation & Remodeling Strong
rs397516406 MYL2 G162E (Gly162Glu) Pathogenic missense variant in the ventricular regulatory myosin light chain ... Cardiomyopathy & Structural Heart Strong
rs3093059 CRP -757T>C Promoter variant that elevates baseline C-reactive protein levels, increasing... Vascular Inflammation & Remodeling Strong
rs4073 IL8 -251A>T Promoter variant affecting interleukin-8 transcription and inflammatory burden Vascular Inflammation & Remodeling Strong
rs2297839 CHI3L1 CHI3L1 Intron Variant Intronic variant in CHI3L1 associated with circulating YKL-40 levels and modu... Allergy & Atopic Disease Emerging
rs4950928 CHI3L1 YKL-40 Promoter Variant (-131C>G) Promoter variant controlling YKL-40 (chitinase 3-like 1) expression; the comm... Allergy & Atopic Disease Strong
rs872129 CHI3L1 CHI3L1 eQTL Variant Third independent eQTL signal at the CHI3L1/YKL-40 locus on chromosome 1q32.1... Allergy & Atopic Disease Moderate