Research
Tag

Atherosclerosis

39 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
rs11556924 ZC3HC1 R363H Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363... Coronary Artery Disease & Atherosclerosis Strong
rs12487736 SCAP SCAP Val798Ile Missense variant in the SCAP cholesterol-sensor gene (Val798Ile) Atherogenic Lipoproteins Moderate
rs1378577 ABCG1 ABCG1 ischemic stroke variant Regulatory variant ~2kb upstream of ABCG1 that modulates transporter expressi... Atherogenic Lipoproteins Moderate
rs13900 CCL2 CCL2 3'UTR variant 3'UTR variant that increases CCL2 mRNA stability via enhanced HuR binding, el... Vascular Inflammation & Remodeling Moderate
rs1800787 FGB -148C>T Upstream promoter variant in fibrinogen beta chain that elevates circulating ... Coagulation & Clotting Factors Strong
rs13324341 MRAS Intronic MRAS variant that creates a MEF2 transcription factor binding site i... Coronary Artery Disease & Atherosclerosis Strong
rs17222842 ALOX5AP ALOX5AP variant (SG13S35) Intronic ALOX5AP haplotype tag; the common G allele marks the HapB cardiovasc... Vascular Inflammation & Remodeling Moderate
rs1800790 FGB -455G>A Promoter variant in the fibrinogen beta-chain gene that upregulates FGB trans... Coagulation & Clotting Factors Strong
rs1333040 CDKN2B-AS1 9p21 locus variant in the ANRIL long non-coding RNA gene associated with intr... Coronary Artery Disease & Atherosclerosis Strong
rs1457043 CYP7A1 Intronic variant in CYP7A1 that tags a haplotype block influencing cholestero... Cholesterol & Lipoproteins Moderate
rs1360590 CDKN2BAS Intronic variant in ANRIL at the 9p21.3 locus — the shared susceptibility reg... Coronary Artery Disease & Atherosclerosis Moderate
rs1799987 CCR5 CCR5 Promoter -2459A>G Regulatory variant in the CCR5 promoter that reduces CCR5 expression by ~45%;... Vascular Inflammation & Remodeling Moderate
rs17228212 SMAD3 Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascula... Coronary Artery Disease & Atherosclerosis Moderate
rs2234714 ABCG1 ABCG1 promoter variant Intronic ABCG1 variant near the promoter region; homozygous carriers of the m... Cholesterol & Lipoproteins Emerging
rs1746048 CXCL12 Regulatory variant 80 kb downstream of CXCL12 on chromosome 10q11; the T alle... Coronary Artery Disease & Atherosclerosis Strong
rs1927911 TLR4 Intronic TLR4 variant in the innate immune receptor gene; the A allele associ... Vascular Inflammation & Remodeling Moderate
rs17465637 MIA3 Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smo... Coronary Artery Disease & Atherosclerosis Strong
rs2237583 PON1 PON1 intron variant Intronic PON1 variant that modulates arylesterase activity of the HDL-bound a... Vascular Inflammation & Remodeling Moderate
rs5174 LRP8 LRP8 R952Q Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at positi... Atherogenic Lipoproteins Moderate
rs17514846 FURIN Intronic regulatory variant modulating FURIN expression via allele-specific D... Coronary Artery Disease & Atherosclerosis Strong
rs55714927 ASGR1 ASGR1 K89K Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gen... Atherogenic Lipoproteins Strong
rs17576 MMP9 MMP9 Q279R Missense variant in the MMP9 fibronectin type II domain affecting matrix meta... Coronary Artery Disease & Atherosclerosis Moderate
rs20455 KIF6 Trp719Arg Missense variant in kinesin family member 6; the Arg allele was associated wi... Coronary Artery Disease & Atherosclerosis Moderate
rs2298566 SNX19 Missense variant in sorting nexin 19; the A allele was associated with elevat... Coronary Artery Disease & Atherosclerosis Moderate
rs3093059 CRP -757T>C Promoter variant that elevates baseline C-reactive protein levels, increasing... Vascular Inflammation & Remodeling Strong
rs3900940 MYH15 T1105A Missense variant in MYH15 encoding a Thr1105Ala substitution in myosin heavy ... Cardiomyopathy & Structural Heart Emerging
rs3850641 TNFSF4 TNFSF4 (OX40L) Intron 1 Variant Intronic variant in TNFSF4 (OX40 ligand); homozygous G carriers show approxim... Coronary Artery Disease & Atherosclerosis Moderate
rs5051 AGT G-6A Promoter variant that increases angiotensinogen gene transcription, raising p... Blood Pressure & Hypertension Strong
rs705379 PON1 PON1 promoter -108C>T Promoter polymorphism that controls PON1 gene expression — the T allele (A on... Vascular Inflammation & Remodeling Strong
rs3918242 MMP9 MMP9 C-1562T Promoter variant that disrupts an SP1 transcription factor binding site, incr... Coronary Artery Disease & Atherosclerosis Strong
rs854555 PON1 PON1 3'UTR variant Intronic/downstream PON1 haplotype-tagging variant associated with PON1 activ... Vascular Inflammation & Remodeling Emerging
rs4888378 CFDP1 Intronic CFDP1 locus variant that regulates BCAR1 expression in vascular tiss... Coronary Artery Disease & Atherosclerosis Strong
rs4977574 CDKN2B-AS1 9p21.3 9p21.3 CAD risk signal in ANRIL; G allele elevates coronary artery disease ri... Coronary Artery Disease & Atherosclerosis Established
rs501120 CXCL12 Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevat... Coronary Artery Disease & Atherosclerosis Strong
rs56062135 SMAD3 SMAD3 intronic variant Intronic SMAD3 variant tagging the CAD-protective haplotype where the T allel... Coronary Artery Disease & Atherosclerosis Strong
rs7025486 DAB2IP DAB2IP intron variant Intronic variant in DAB2IP associated with increased risk of abdominal aortic... Coronary Artery Disease & Atherosclerosis Strong
rs57137919 ABCG1 ABCG1 promoter variant that reduces transporter expression, impairing macroph... Triglycerides & Fatty Acids Moderate