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