Tag

Heart Disease

88 genetic variants with this tag.

RSID	Gene	Description	Category
rs1010	VAMP8 VAMP8 3'UTR Variant	Common 3'UTR variant in VAMP8 associated with modestly elevated myocardial in...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Moderate
rs1036477	FBN1	Deep intronic FBN1 variant associated with larger ascending aortic dimensions...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs2200733	PITX2 PITX2 4q25 AF susceptibility variant	Intergenic variant at chromosome 4q25 near PITX2 — the strongest GWAS signal ...	Arrhythmia & Heart Rhythm	Heart Disease	Strong
rs104894502	TPM1 E180G	Rare pathogenic missense variant in cardiac alpha-tropomyosin causing familia...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs10889160	CYP2J2	Intronic CYP2J2 tag SNP; the C allele marks a haplotype associated with incre...	Vascular Inflammation & Remodeling	Heart Disease	Moderate
rs11265611	IL6R	Intronic IL6R variant in LD with the IL-6 receptor signaling locus; G allele ...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs28937317	SCN5A N1325S	Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Heart Disease	Established
rs1021737	CTH CTH Ser403Ile	Missense variant in CTH (cystathionine gamma-lyase) that impairs transsulfura...	Blood Pressure & Hypertension	Heart Disease	Moderate
rs104894503	TPM1 D175N (Asp175Asn)	Pathogenic alpha-tropomyosin missense variant that increases thin filament ca...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs11556924	ZC3HC1 R363H	Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs12487736	SCAP SCAP Val798Ile	Missense variant in the SCAP cholesterol-sensor gene (Val798Ile)	Atherogenic Lipoproteins	Heart Disease	Moderate
rs28937319	SCN5A SCN5A Cardiac Sodium Channel Variant 2	Rare loss-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Heart Disease	Strong
rs104894654	DTNA P121L	Missense variant in alpha-dystrobrevin disrupting the EF-hand calcium-binding...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs1173771	NPR3 NPR3 promoter variant	Regulatory variant downstream of the NPR3 gene that reduces natriuretic pepti...	Blood Pressure & Hypertension	Heart Disease	Strong
rs12095080	DIO1 DIO1 cardiac mortality variant	3' UTR variant in the type 1 deiodinase gene associated with markedly increas...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Emerging
rs137853964	LDLR Val827Ile / Val827Phe	LDLR missense variant at position 827 within the cytoplasmic NPXY internaliza...	Atherogenic Lipoproteins	Heart Disease	Moderate
rs2911463	PIEZO1	Intronic variant in PIEZO1, the endothelial mechanosensory ion channel that s...	Arrhythmia & Heart Rhythm	Heart Disease	Strong
rs12402521	PDC	Intronic PDC variant in the phosducin gene — G homozygotes show 12–15 mmHg hi...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs137852641	NOTCH3	Pathogenic NOTCH3 missense variant p.Arg332Cys that alters the cysteine count...	Vascular Inflammation & Remodeling	Heart Disease	Established
rs2968863	KCNH2	Intergenic variant near KCNH2 (hERG potassium channel) at 7q36.1 that shorten...	Arrhythmia & Heart Rhythm	Heart Disease	Moderate
rs10519177	FBN1	Intronic FBN1 variant that requires two copies of the G allele to impair fibr...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs12740374	SORT1 1p13.3 locus	Regulatory variant that increases sortilin expression, lowering LDL cholester...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Established
rs2968864	KCNH2 KCNH2 QT interval GWAS variant (7q36.1)	Intergenic variant at 7q36.1 near KCNH2 (hERG potassium channel) that modulat...	Arrhythmia & Heart Rhythm	Heart Disease	Strong
rs111517471	PKP2	Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs13324341	MRAS	Intronic MRAS variant that creates a MEF2 transcription factor binding site i...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs17222842	ALOX5AP ALOX5AP variant (SG13S35)	Intronic ALOX5AP haplotype tag; the common G allele marks the HapB cardiovasc...	Vascular Inflammation & Remodeling	Heart Disease	Moderate
rs2131925	ANGPTL3 DOCK7/ANGPTL3 Locus Tag SNP	Intronic tag SNP in the DOCK7/ANGPTL3 region; the T allele is associated with...	Atherogenic Lipoproteins	Heart Disease	Strong
rs216311	VWF Thr1381Ala	Missense variant in VWF at codon 1381 (Thr→Ala); the Ala allele (C on plus st...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Moderate
rs1333040	CDKN2B-AS1	9p21 locus variant in the ANRIL long non-coding RNA gene associated with intr...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs1360590	CDKN2BAS	Intronic variant in ANRIL at the 9p21.3 locus — the shared susceptibility reg...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs1600482909	JPH2 Ser101Arg	Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sar...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs2004776	AGT	Intronic regulatory variant in angiotensinogen intron I that enhances HNF3β t...	Blood Pressure & Hypertension	Heart Disease	Strong
rs185392267	PCSK9 Arg96Cys	Gain-of-function missense variant in PCSK9 that increases intracellular LDL r...	Cholesterol & Lipoproteins	Heart Disease	Strong
rs193922385	MYBPC3 Arg177Cys	A rare missense variant in the C1 immunoglobulin domain of cardiac myosin-bin...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs2070699	EDN1 EDN1 G2288T Intronic Variant	Intronic EDN1 variant modulating endothelin-1 expression; the T allele associ...	Blood Pressure & Hypertension	Heart Disease	Moderate
rs4225	APOC3 APOC3 3'UTR c.*71G>T	3'UTR variant that creates a microRNA-4271 binding site; the T allele suppres...	Atherogenic Lipoproteins	Heart Disease	Moderate
rs17228212	SMAD3	Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascula...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs193922680	ACTC1 ACTC1 p.Glu101Lys	Pathogenic missense variant in cardiac alpha-actin that causes hypertrophic c...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs2270915	NPR3 N521D	Missense variant in NPR3 clearance receptor disrupting Gi protein coupling, i...	Blood Pressure & Hypertension	Heart Disease	Moderate
rs4253623	PPARA	Intronic PPARA variant whose minor G allele has been associated with modest m...	Atherogenic Lipoproteins	Heart Disease	Emerging
rs6048	F9 Factor IX Malmö	Common missense variant in the X-linked coagulation factor IX gene; the G all...	Coagulation & Clotting Factors	Heart Disease	Moderate
rs1746048	CXCL12	Regulatory variant 80 kb downstream of CXCL12 on chromosome 10q11; the T alle...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs1927911	TLR4	Intronic TLR4 variant in the innate immune receptor gene; the A allele associ...	Vascular Inflammation & Remodeling	Heart Disease	Moderate
rs199474703	MYL3 Arg94His (R94H)	Rare pathogenic missense variant in the myosin essential light chain causing ...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs28673647	ADAMTS13	Intronic ADAMTS13 variant modulating plasma ADAMTS13 levels; the G allele con...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Strong
rs6050	FGA Thr312Ala	Missense variant in the fibrinogen alpha chain (FGA) that substitutes alanine...	Coagulation & Clotting Factors	Heart Disease	Strong
rs17465637	MIA3	Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smo...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs201457110	DCHS1	Rare pathogenic missense variant in DCHS1 (R2513H) causing mitral valve prola...	Cardiomyopathy & Structural Heart	Heart Disease	Moderate
rs33978901	VWF p.Arg924Gln	VWF missense variant (R924Q) that reduces von Willebrand factor and Factor VI...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Moderate
rs5174	LRP8 LRP8 R952Q	Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at positi...	Atherogenic Lipoproteins	Heart Disease	Moderate
rs6063	FGG Gly191Arg	Rare missense variant in the fibrinogen gamma chain producing a substantially...	Coagulation & Clotting Factors	Heart Disease	Moderate
rs17514846	FURIN	Intronic regulatory variant modulating FURIN expression via allele-specific D...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs1801252	ADRB1 Ser49Gly	Beta-1 adrenergic receptor variant at position 49 affecting receptor downregu...	Fitness & Body	Heart Disease	Strong
rs2118181	FBN1	Intronic FBN1 variant associated with elevated thoracic aortic dissection ris...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs55714927	ASGR1 ASGR1 K89K	Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gen...	Atherogenic Lipoproteins	Heart Disease	Strong
rs17576	MMP9 MMP9 Q279R	Missense variant in the MMP9 fibronectin type II domain affecting matrix meta...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs267606908	MYH7 D906G	Pathogenic beta-myosin heavy chain missense variant causing a hypercontractil...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs20455	KIF6 Trp719Arg	Missense variant in kinesin family member 6; the Arg allele was associated wi...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs36211723	MYBPC3 Asp770Asn (c.2308G>A)	Rare pathogenic missense variant at the last nucleotide of MYBPC3 exon 23, ca...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs6008845	PPARA PPARA intronic C/T	Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience...	Atherogenic Lipoproteins	Heart Disease	Strong
rs3091244	CRP -286C>T>A	Triallelic promoter variant that strongly influences basal CRP transcription;...	Vascular Inflammation & Remodeling	Heart Disease	Strong
rs371898076	MYH7 Arg663His (R663H)	Pathogenic missense variant in the myosin motor domain causing hypertrophic c...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs3918226	NOS3	NOS3 promoter variant that reduces eNOS expression and increases hypertension...	Blood Pressure & Hypertension	Heart Disease	Strong
rs2298566	SNX19	Missense variant in sorting nexin 19; the A allele was associated with elevat...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs375882485	MYBPC3 Arg502Trp	Pathogenic missense variant in the C3 domain of cardiac myosin-binding protei...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs4762	AGT T174M	Missense variant in angiotensinogen that increases AGT protein levels and rai...	Blood Pressure & Hypertension	Heart Disease	Moderate
rs61748497	VWF C1060R	Pathogenic missense in the VWF D3 domain that abolishes factor VIII binding; ...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Established
rs3900940	MYH15 T1105A	Missense variant in MYH15 encoding a Thr1105Ala substitution in myosin heavy ...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs688	LDLR Asn591Asn (c.1773C>T)	Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor ...	Atherogenic Lipoproteins	Heart Disease	Strong
rs397514752	MYBPC3 Gly490Val	Ultra-rare autosomal recessive MYBPC3 missense variant; homozygotes develop s...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs397516406	MYL2 G162E (Gly162Glu)	Pathogenic missense variant in the ventricular regulatory myosin light chain ...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs5051	AGT G-6A	Promoter variant that increases angiotensinogen gene transcription, raising p...	Blood Pressure & Hypertension	Heart Disease	Strong
rs3918242	MMP9 MMP9 C-1562T	Promoter variant that disrupts an SP1 transcription factor binding site, incr...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs4855559	MYH15	Intronic variant in the myosin heavy chain 15 gene associated with impaired c...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs4537545	IL6R IL6R intron variant	Intronic IL6R variant in linkage disequilibrium with the functional Asp358Ala...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs587782951	JPH2 Thr161Lys	Pathogenic missense variant in junctophilin-2 that disrupts sarcoplasmic reti...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs4888378	CFDP1	Intronic CFDP1 locus variant that regulates BCAR1 expression in vascular tiss...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs61754002	VWF Y357X	Nonsense mutation creating a premature stop codon in von Willebrand factor; n...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Established
rs74315379	TNNT2 R141W / R151W	Rare pathogenic missense variant in cardiac troponin T causing calcium desens...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs76992529	TTR Val142Ile (V142I)	Most common amyloidogenic TTR variant in African Americans, causing late-onse...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs501120	CXCL12	Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevat...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs841	GCH1	Intronic/3'UTR GCH1 variant tagging reduced tetrahydrobiopterin (BH4) synthes...	Blood Pressure & Hypertension	Heart Disease	Moderate
rs56062135	SMAD3 SMAD3 intronic variant	Intronic SMAD3 variant tagging the CAD-protective haplotype where the T allel...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs6922269	MTHFD1L	Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with ...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs700651	BOLL	Intronic variant near the BOLL gene associated with increased intracranial an...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs7025486	DAB2IP DAB2IP intron variant	Intronic variant in DAB2IP associated with increased risk of abdominal aortic...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs2280275	CYP2J2	Intronic variant in CYP2J2	Pharmacogenomics	Heart Disease	Moderate
rs4775065	LIPC	Intronic LIPC variant associated with susceptibility to low HDL-C and coronar...	Triglycerides & Fatty Acids	Heart Disease	Moderate