Tag
Atherosclerosis
67 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs1024611 | CCL2 A-2518G | Promoter variant that increases CCL2 (MCP-1) transcription, amplifying monocy... | Vascular Inflammation & Remodeling | Moderate | |
| rs1044317 | ABCG1 ABCG1 3'UTR variant | 3'UTR variant in ABCG1 that may reduce transporter expression, impairing chol... | Cholesterol & Lipoproteins | Moderate | |
| rs12487736 | SCAP SCAP Val798Ile | Missense variant in the SCAP cholesterol-sensor gene (Val798Ile); the C allel... | Atherogenic Lipoproteins | Moderate | |
| rs10507391 | ALOX5AP SG13S114 intron variant | Intronic ALOX5AP variant in the HapA haplotype; the A allele is associated wi... | Vascular Inflammation & Remodeling | Moderate | |
| rs11556924 | ZC3HC1 R363H | Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs137852912 | PCSK9 D374Y | The most severe gain-of-function PCSK9 mutation, increasing LDLR-binding affi... | Atherogenic Lipoproteins | Established | |
| rs11881940 | HNRNPUL1 | Intronic variant in HNRNPUL1, an RNA-processing gene highly expressed in macr... | Coronary Artery Disease & Atherosclerosis | Moderate | |
| rs11568822 | APOC1 APOC1 HCR-1 promoter variant | Promoter insertion variant in APOC1 that increases gene transcription by 50%,... | Cholesterol & Lipoproteins | Moderate | |
| rs13236689 | CD36 | Intronic CD36 variant that acts as a platelet eQTL, modulating CD36 surface e... | Triglycerides & Fatty Acids | Moderate | |
| rs1378577 | ABCG1 ABCG1 ischemic stroke variant | Regulatory variant ~2kb upstream of ABCG1 that modulates transporter expressi... | Atherogenic Lipoproteins | Moderate | |
| rs13324341 | MRAS | Intronic MRAS variant that creates a MEF2 transcription factor binding site i... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs1800787 | FGB -148C>T | Upstream promoter variant in fibrinogen beta chain that elevates circulating ... | Coagulation & Clotting Factors | Strong | |
| rs186021206 | ASGR1 | Intergenic tag SNP 7.3 kb downstream of ASGR1; the rare A allele proxies the ... | Atherogenic Lipoproteins | Strong | |
| rs1333040 | CDKN2B-AS1 | 9p21 locus variant in the ANRIL long non-coding RNA gene associated with intr... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs1800788 | FGB -854G>A | Upstream promoter variant in fibrinogen beta chain that increases IL-6-driven... | Coagulation & Clotting Factors | Moderate | |
| rs1333049 | CDKN2B-AS1 9p21 locus | Strongest GWAS signal for coronary artery disease; risk C allele accelerates ... | Coronary Artery Disease & Atherosclerosis | Established | |
| rs1800789 | FGB -249G>A | Upstream promoter variant in fibrinogen beta chain that is associated with lo... | Coagulation & Clotting Factors | Moderate | |
| rs28942111 | PCSK9 S127R | Gain-of-function PCSK9 missense variant (Ser127Arg) causing autosomal dominan... | Atherogenic Lipoproteins | Established | |
| rs12704795 | PON2 PON2 intron 1 variant | Intronic PON2 haplotype tag; the A allele is associated with reduced intracel... | Vascular Inflammation & Remodeling | Moderate | |
| rs1360590 | CDKN2BAS | Intronic variant in ANRIL at the 9p21.3 locus — the shared susceptibility reg... | Coronary Artery Disease & Atherosclerosis | Moderate | |
| rs1800790 | FGB -455G>A | Promoter variant in the fibrinogen beta-chain gene that upregulates FGB trans... | Coagulation & Clotting Factors | Strong | |
| rs13900 | CCL2 CCL2 3'UTR variant | 3'UTR variant that increases CCL2 mRNA stability via enhanced HuR binding, el... | Vascular Inflammation & Remodeling | Moderate | |
| rs17228212 | SMAD3 | Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascula... | Coronary Artery Disease & Atherosclerosis | Moderate | |
| rs16944 | IL1B -511C>T | Promoter variant affecting IL-1 beta production, influencing inflammatory res... | Vascular Inflammation & Remodeling | Strong | |
| rs1746048 | CXCL12 | Regulatory variant 80 kb downstream of CXCL12 on chromosome 10q11; the T alle... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs17222814 | ALOX5AP SG13S114 (HapB tag) | Intronic ALOX5AP variant tagging the HapB risk haplotype; the A allele marks ... | Vascular Inflammation & Remodeling | Moderate | |
| rs17465637 | MIA3 | Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smo... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs17222842 | ALOX5AP ALOX5AP variant (SG13S32) | Intronic ALOX5AP haplotype tag; the common G allele marks the HapB cardiovasc... | Vascular Inflammation & Remodeling | Moderate | |
| rs17514846 | FURIN | Intronic regulatory variant modulating FURIN expression via allele-specific D... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs17576 | MMP9 MMP9 Q279R | Missense variant in the MMP9 fibronectin type II domain affecting matrix meta... | Coronary Artery Disease & Atherosclerosis | Moderate | |
| rs5174 | LRP8 LRP8 R952Q | Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at positi... | Atherogenic Lipoproteins | Moderate | |
| rs5177 | LRP8 LRP8 3'UTR variant | 3'UTR variant in LRP8 (ApoER2) that affects mRNA stability and forms part of ... | Atherogenic Lipoproteins | Moderate | |
| rs137943601 | LDLR LDLR E408* (Glu408Ter) | Nonsense mutation in the LDLR gene creating a premature stop codon at positio... | Cholesterol & Lipoproteins | Strong | |
| rs1799987 | CCR5 CCR5 Promoter -2459A>G | Regulatory variant in the CCR5 promoter that reduces CCR5 expression by ~45%;... | Vascular Inflammation & Remodeling | Moderate | |
| rs20455 | KIF6 Trp719Arg | Missense variant in kinesin family member 6; the Arg allele was associated wi... | Coronary Artery Disease & Atherosclerosis | Moderate | |
| rs55714927 | ASGR1 ASGR1 K89K | Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gen... | Atherogenic Lipoproteins | Strong | |
| rs1457043 | CYP7A1 | Intronic variant in CYP7A1 that tags a haplotype block influencing cholestero... | Cholesterol & Lipoproteins | Moderate | |
| rs1800947 | CRP +1059G>C | Synonymous exon 2 variant that influences baseline C-reactive protein express... | Vascular Inflammation & Remodeling | Strong | |
| rs2298566 | SNX19 | Missense variant in sorting nexin 19 that alters endolysosomal positioning at... | Coronary Artery Disease & Atherosclerosis | Moderate | |
| rs2228314 | SREBF2 SREBF2 G1784C | Missense variant in the master cholesterol transcription factor SREBP-2 that ... | Cholesterol & Lipoproteins | Moderate | |
| rs5051 | AGT G-6A | Promoter variant that increases angiotensinogen gene transcription, raising p... | Blood Pressure & Hypertension | Strong | |
| rs2234714 | ABCG1 ABCG1 promoter variant | Intronic ABCG1 variant near the promoter region; homozygous carriers of the m... | Cholesterol & Lipoproteins | Emerging | |
| rs1927911 | TLR4 | Intronic TLR4 variant in the innate immune receptor gene; the A allele associ... | Vascular Inflammation & Remodeling | Moderate | |
| rs2237583 | PON1 PON1 intron variant | Intronic PON1 variant that modulates arylesterase activity of the HDL-bound a... | Vascular Inflammation & Remodeling | Moderate | |
| rs3900940 | MYH15 T1105A | Missense variant in MYH15 encoding a Thr1105Ala substitution in myosin heavy ... | Cardiomyopathy & Structural Heart | Emerging | |
| rs730882094 | LDLR Asn316Ser (N316S) | Rare likely-pathogenic missense variant in the LDLR EGF-like repeat domain ca... | Atherogenic Lipoproteins | Strong | |
| rs1537373 | CDKN2B-AS1 ANRIL T2D/Cardiovascular Variant | Regulatory intronic variant within ANRIL (CDKN2B-AS1) at the 9p21.3 locus; th... | Blood Sugar & Diabetes | Strong | |
| rs730882105 | LDLR p.Val524Met | Rare LDLR missense variant (c.1570G>A, p.Val524Met) associated with familial ... | Atherogenic Lipoproteins | Moderate | |
| rs3850641 | TNFSF4 TNFSF4 (OX40L) Intron 1 Variant | Intronic variant in TNFSF4 (OX40 ligand) linked to a promoter haplotype that ... | Coronary Artery Disease & Atherosclerosis | Moderate | |
| rs28942085 | LDLR LDLR Y828C (J.D. mutation) | Pathogenic LDLR missense variant (p.Tyr828Cys) that traps LDL receptors outsi... | Cholesterol & Lipoproteins | Established | |
| rs3918242 | MMP9 MMP9 C-1562T | Promoter variant that disrupts an SP1 transcription factor binding site, incr... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs4888378 | CFDP1 | Intronic CFDP1 locus variant that regulates BCAR1 expression in vascular tiss... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs4977574 | CDKN2B-AS1 9p21.3 | Independent 9p21.3 CAD risk signal in ANRIL; G allele elevates coronary arter... | Coronary Artery Disease & Atherosclerosis | Established | |
| rs3093059 | CRP -757T>C | Promoter variant that elevates baseline C-reactive protein levels, increasing... | Vascular Inflammation & Remodeling | Strong | |
| rs501120 | CXCL12 | Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevat... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs4073 | IL8 -251A>T | Promoter variant affecting interleukin-8 transcription and inflammatory burden | Vascular Inflammation & Remodeling | Strong | |
| rs4729189 | PON2 | Intronic PON2 variant associated with variation in serum paraoxonase activity... | Vascular Inflammation & Remodeling | Emerging | |
| rs56062135 | SMAD3 SMAD3 intronic variant | Intronic SMAD3 variant tagging the CAD-protective haplotype where the T allel... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs619203 | ROS1 Ser2229Cys | Missense variant in the ROS1 receptor tyrosine kinase associated with atherot... | Coronary Artery Disease & Atherosclerosis | Emerging | |
| rs705379 | PON1 PON1 promoter -108C>T | Promoter polymorphism that controls PON1 gene expression — the T allele (A on... | Vascular Inflammation & Remodeling | Strong | |
| rs854555 | PON1 PON1 3'UTR variant | Intronic/downstream PON1 haplotype-tagging variant associated with PON1 activ... | Vascular Inflammation & Remodeling | Emerging | |
| rs7025486 | DAB2IP DAB2IP intron variant | Intronic variant in DAB2IP associated with increased risk of abdominal aortic... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs854571 | PON1 PON1 -108C>T promoter variant | Promoter variant that controls PON1 transcription; the T allele reduces PON1 ... | Vascular Inflammation & Remodeling | Strong | |
| rs854572 | PON1 PON1 promoter -909G>C | Promoter polymorphism that modulates PON1 gene expression level — the G allel... | Vascular Inflammation & Remodeling | Moderate | |
| rs35136575 | APOC1P1 HCR-2 Enhancer Variant | Regulatory variant in the APOE/APOC hepatic enhancer HCR-2 that lowers plasma... | Triglycerides & Fatty Acids | Strong | |
| rs5181 | LRP8 Trp466Cys | Rare missense variant in the ApoE receptor 2 (LRP8) ligand-binding domain, di... | Fat Storage & Energy | Emerging | |
| rs57137919 | ABCG1 | ABCG1 promoter variant that reduces transporter expression, impairing macroph... | Triglycerides & Fatty Acids | Moderate |