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