Tag

Heart Disease

164 genetic variants with this tag.

RSID	Gene	Description	Category
rs10033464	KCNN3 KCNN3 AF susceptibility variant	Intergenic 4q25 variant near KCNN3 and PITX2 that confers an independent risk...	Arrhythmia & Heart Rhythm	Heart Disease	Strong
rs1010	VAMP8 VAMP8 3'UTR Variant	Common 3'UTR variant in VAMP8 that disrupts a microRNA-96 binding site, eleva...	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
rs104894369	MYL2 Arg58Gln	Pathogenic missense variant in the cardiac regulatory myosin light chain caus...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs10918594	NOS1AP	Regulatory variant upstream of NOS1AP (CAPON) associated with QT interval pro...	Arrhythmia & Heart Rhythm	Heart Disease	Strong
rs1021737	CTH CTH Ser403Ile	Missense variant in CTH (cystathionine gamma-lyase) that impairs transsulfura...	Blood Pressure & Hypertension	Heart Disease	Moderate
rs104894502	TPM1 E180G	Rare pathogenic missense variant in cardiac alpha-tropomyosin causing familia...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs1048990	PSMA6 PSMA6 -8C>G	5'UTR variant that enhances PSMA6 transcription, amplifying proteasome-driven...	Innate Immunity & Infection Defense	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
rs12232375	ZFPM1 ZFPM1 Hematology/Cardiac Locus Variant	Intronic ZFPM1 variant tagging reduced GATA cofactor regulatory activity; the...	Arrhythmia & Heart Rhythm	Heart Disease	Strong
rs12487736	SCAP SCAP Val798Ile	Missense variant in the SCAP cholesterol-sensor gene (Val798Ile); the C allel...	Atherogenic Lipoproteins	Heart Disease	Moderate
rs104894503	TPM1 D175N (Asp175Asn)	Pathogenic alpha-tropomyosin missense variant that increases thin filament ca...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs10507391	ALOX5AP SG13S114 intron variant	Intronic ALOX5AP variant in the HapA haplotype; the A allele is associated wi...	Vascular Inflammation & Remodeling	Heart Disease	Moderate
rs10841496	PDE3A	5' UTR variant in phosphodiesterase 3A that may alter PDE3A expression, affec...	Blood Pressure & Hypertension	Heart Disease	Emerging
rs115532916	ACAD9 ACAD9 Ala326Pro	Pathogenic missense variant in acyl-CoA dehydrogenase family member 9, causin...	Metabolic Enzymes & Rare Disorders	Heart Disease	Strong
rs11556924	ZC3HC1 R363H	Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs137852912	PCSK9 D374Y	The most severe gain-of-function PCSK9 mutation, increasing LDLR-binding affi...	Atherogenic Lipoproteins	Heart Disease	Established
rs17175830	ZFPM1 ZFPM1 intronic variant	Intronic variant in ZFPM1 (FOG1), the master transcriptional co-regulator of ...	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
rs1060502576	BMPR2	Rare stop-gain variant in BMPR2 (p.Trp466Ter) that truncates the kinase domai...	Vascular Inflammation & Remodeling	Heart Disease	Established
rs11881940	HNRNPUL1	Intronic variant in HNRNPUL1, an RNA-processing gene highly expressed in macr...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs13412535	SERPINE2	Intronic regulatory variant in SERPINE2 that modulates expression of Protease...	Coagulation & Clotting Factors	Heart Disease	Strong
rs137853964	LDLR Val827Ile / Val827Phe	LDLR missense variant at position 827 within the cytoplasmic NPXY internaliza...	Atherogenic Lipoproteins	Heart Disease	Moderate
rs1805123	KCNH2 K897T	Common KCNH2 missense variant that alters hERG potassium channel kinetics, sh...	Arrhythmia & Heart Rhythm	Heart Disease	Strong
rs1060502581	BMPR2	Nonsense variant in BMPR2 introducing a premature stop codon (p.Arg321Ter) th...	Vascular Inflammation & Remodeling	Heart Disease	Established
rs1173771	NPR3 NPR3 promoter variant	Regulatory variant near the NPR3 transcription start site that reduces natriu...	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
rs1799889	SERPINE1 PAI-1 4G/5G Promoter	Promoter insertion/deletion polymorphism that controls PAI-1 (plasminogen act...	Coagulation & Clotting Factors	Heart Disease	Strong
rs199473521	KCNH2 K595N	Ultra-rare KCNH2 missense variant substituting asparagine for lysine at posit...	Arrhythmia & Heart Rhythm	Heart Disease	Moderate
rs104894797	DMD Arg3182Ter (R3182*)	Pathogenic nonsense variant in dystrophin creating a premature stop codon at ...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs10889160	CYP2J2	Intronic CYP2J2 tag SNP; the C allele marks a haplotype associated with reduc...	Vascular Inflammation & Remodeling	Heart Disease	Moderate
rs12402521	PDC	Intronic PDC variant in the phosducin gene — G homozygotes show 12–15 mmHg hi...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs2200733	PITX2 PITX2 4q25 AF susceptibility variant	Intergenic variant at chromosome 4q25 near PITX2 — the strongest GWAS signal ...	Arrhythmia & Heart Rhythm	Heart Disease	Strong
rs104894805	EMD Pro183His (P183H)	Pathogenic missense variant in emerin that weakens nuclear lamina interaction...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs12740374	SORT1 1p13.3 locus	Regulatory variant that increases sortilin expression, lowering LDL cholester...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Established
rs28634651	ZFPM1	Common intronic variant in the FOG1 megakaryocyte transcription factor gene t...	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
rs11572325	CYP2J2	Intronic CYP2J2 variant associated with increased myocardial infarction risk ...	Vascular Inflammation & Remodeling	Heart Disease	Moderate
rs13324341	MRAS	Intronic MRAS variant that creates a MEF2 transcription factor binding site i...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs186021206	ASGR1	Intergenic tag SNP 7.3 kb downstream of ASGR1; the rare A allele proxies the ...	Atherogenic Lipoproteins	Heart Disease	Strong
rs28937317	SCN5A N1325S	Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Heart Disease	Established
rs1057518309	DSP Arg451Gly	Rare pathogenic missense variant in desmoplakin that enhances calpain-mediate...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs11967262	VEGFA	Regulatory variant ~7 kb upstream of VEGFA linked to elevated varicose vein r...	Vascular Inflammation & Remodeling	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
rs1800380	VWF Arg960= (synonymous)	Common synonymous variant in the VWF D2/D' domain region; the T allele is par...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Strong
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
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
rs111517471	PKP2	Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–...	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
rs28942111	PCSK9 S127R	Gain-of-function PCSK9 missense variant (Ser127Arg) causing autosomal dominan...	Atherogenic Lipoproteins	Heart Disease	Established
rs2911463	PIEZO1	Intronic variant in PIEZO1, the endothelial mechanosensory ion channel that s...	Arrhythmia & Heart Rhythm	Heart Disease	Strong
rs11570112	MYBPC3 Gln998X	Pathogenic truncating variant in cardiac myosin-binding protein C causing hap...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs1360590	CDKN2BAS	Intronic variant in ANRIL at the 9p21.3 locus — the shared susceptibility reg...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs2070699	EDN1 EDN1 G2288T Intronic Variant	Intronic EDN1 variant modulating endothelin-1 expression; the T allele associ...	Blood Pressure & Hypertension	Heart Disease	Moderate
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
rs2968863	KCNH2	Intergenic variant near KCNH2 (hERG potassium channel) at 7q36.1 that shorten...	Arrhythmia & Heart Rhythm	Heart Disease	Moderate
rs137852641	NOTCH3	Pathogenic NOTCH3 missense variant p.Arg332Cys that alters the cysteine count...	Vascular Inflammation & Remodeling	Heart Disease	Established
rs1801020	F12 46C>T	5' UTR variant that reduces Factor XII translation efficiency, lowering plasm...	Coagulation & Clotting Factors	Heart Disease	Moderate
rs2270915	NPR3 N521D	Missense variant in NPR3 clearance receptor disrupting Gi protein coupling, i...	Blood Pressure & Hypertension	Heart Disease	Moderate
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
rs128627256	DMD Arg2905Ter (R2905X)	Nonsense variant in dystrophin that eliminates full-length protein, causing X...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs17228212	SMAD3	Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascula...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs2301612	ADAMTS13 Q448E	Common ADAMTS13 missense variant substituting glutamate for glutamine at posi...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Moderate
rs397508068	KCNQ1 Phe340del	Pathogenic in-frame 3-bp deletion in the KCNQ1 potassium channel that removes...	Arrhythmia & Heart Rhythm	Heart Disease	Established
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
rs140597	FBN1 D1113G	Pathogenic missense variant in fibrillin-1 replacing the calcium-coordinating...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs1746048	CXCL12	Regulatory variant 80 kb downstream of CXCL12 on chromosome 10q11; the T alle...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs397508072	KCNQ1 Q356X	Nonsense mutation in the cardiac IKs potassium channel causing premature prot...	Arrhythmia & Heart Rhythm	Heart Disease	Established
rs4253623	PPARA	Intronic PPARA variant whose minor G allele has been associated with modest m...	Atherogenic Lipoproteins	Heart Disease	Emerging
rs1600482909	JPH2 Ser101Arg	Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sar...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs17222814	ALOX5AP SG13S114 (HapB tag)	Intronic ALOX5AP variant tagging the HapB risk haplotype; the A allele marks ...	Vascular Inflammation & Remodeling	Heart Disease	Moderate
rs17465637	MIA3	Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smo...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs2731672	F12	Regulatory tag variant in the Factor XII locus associated with plasma FXII ac...	Coagulation & Clotting Factors	Heart Disease	Strong
rs397508075	KCNQ1 KCNQ1 Long QT Type 1 Variant 3	Pathogenic nonsense variant (Q359X) in KCNQ1 that truncates the IKs potassium...	Arrhythmia & Heart Rhythm	Heart Disease	Established
rs17222842	ALOX5AP ALOX5AP variant (SG13S32)	Intronic ALOX5AP haplotype tag; the common G allele marks the HapB cardiovasc...	Vascular Inflammation & Remodeling	Heart Disease	Moderate
rs17514846	FURIN	Intronic regulatory variant modulating FURIN expression via allele-specific D...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs187830361	MYBPC3 Trp792Arg (W792R)	Ultra-rare pathogenic missense variant in the C6 fibronectin domain of cardia...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs397508077	KCNQ1 Long QT Type 1 Variant 4 (c.1124_1127del)	Pathogenic 4bp frameshift deletion in KCNQ1 that eliminates the IKs potassium...	Arrhythmia & Heart Rhythm	Heart Disease	Established
rs17576	MMP9 MMP9 Q279R	Missense variant in the MMP9 fibronectin type II domain affecting matrix meta...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs193922239	FBN1	Pathogenic missense variant in fibrillin-1 replacing glycine 2627 with argini...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs5174	LRP8 LRP8 R952Q	Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at positi...	Atherogenic Lipoproteins	Heart Disease	Moderate
rs57875989	PER3 PER3 VNTR (4/5 repeat)	Coding VNTR in exon 18 of the circadian clock gene PER3; 4-repeat vs 5-repeat...	Arrhythmia & Heart Rhythm	Heart Disease	Moderate
rs1805762	M6PR	Intronic M6PR variant associated with modest hypertension risk in East Asian ...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Emerging
rs193922385	MYBPC3 Arg177Cys	A rare missense variant in the C1 immunoglobulin domain of cardiac myosin-bin...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs28647808	ADAMTS13 Pro618Ala	Missense variant in the spacer domain of ADAMTS13 that reduces VWF-cleaving p...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Moderate
rs3910053	NR3C2	Intronic NR3C2 variant associated with salt sensitivity of blood pressure and...	Blood Pressure & Hypertension	Heart Disease	Emerging
rs4253238	KLKB1 KLKB1 intronic variant	Intronic KLKB1 variant whose T allele elevates plasma kallikrein enzymatic ac...	Coagulation & Clotting Factors	Heart Disease	Moderate
rs5177	LRP8 LRP8 3'UTR variant	3'UTR variant in LRP8 (ApoER2) that affects mRNA stability and forms part of ...	Atherogenic Lipoproteins	Heart Disease	Moderate
rs6997709	KCNK9	Intergenic variant upstream of KCNK9 (TASK3 potassium channel) associated wit...	Arrhythmia & Heart Rhythm	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
rs20455	KIF6 Trp719Arg	Missense variant in kinesin family member 6; the Arg allele was associated wi...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs28673647	ADAMTS13	Intronic ADAMTS13 variant modulating plasma ADAMTS13 levels; the G allele con...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Strong
rs3918226	NOS3	NOS3 promoter variant that reduces eNOS expression and increases hypertension...	Blood Pressure & Hypertension	Heart Disease	Strong
rs55714927	ASGR1 ASGR1 K89K	Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gen...	Atherogenic Lipoproteins	Heart Disease	Strong
rs1800471	TGFB1 R25P (Arg25Pro)	Signal-peptide missense variant altering TGF-β1 secretion levels, associated ...	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
rs33978901	VWF p.Arg924Gln	VWF missense variant (R924Q) that reduces von Willebrand factor and Factor VI...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Moderate
rs4762	AGT T174M	Missense variant in angiotensinogen that increases AGT protein levels and rai...	Blood Pressure & Hypertension	Heart Disease	Moderate
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
rs201457110	DCHS1	Rare pathogenic missense variant in DCHS1 (R2513H) causing mitral valve prola...	Cardiomyopathy & Structural Heart	Heart Disease	Moderate
rs6008845	PPARA PPARA intronic C/T	Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience...	Atherogenic Lipoproteins	Heart Disease	Strong
rs6050	FGA Thr312Ala	Missense variant in the fibrinogen alpha chain (FGA) that substitutes alanine...	Coagulation & Clotting Factors	Heart Disease	Strong
rs185392267	PCSK9 Arg96Cys	Gain-of-function missense variant in PCSK9 that increases intracellular LDL r...	Cholesterol & Lipoproteins	Heart Disease	Strong
rs2118181	FBN1	Intronic FBN1 variant associated with elevated thoracic aortic dissection ris...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs2298566	SNX19	Missense variant in sorting nexin 19 that alters endolysosomal positioning at...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs6063	FGG Gly191Arg	Rare missense variant in the fibrinogen gamma chain that disrupts fibrin poly...	Coagulation & Clotting Factors	Heart Disease	Moderate
rs267606908	MYH7 D906G	Pathogenic beta-myosin heavy chain missense variant causing a hypercontractil...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs2943634	IRS1	Intergenic variant near IRS1 at 2q36.3 associated with ischemic stroke risk, ...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs5051	AGT G-6A	Promoter variant that increases angiotensinogen gene transcription, raising p...	Blood Pressure & Hypertension	Heart Disease	Strong
rs1801252	ADRB1 Ser49Gly	Beta-1 adrenergic receptor variant at position 49 affecting receptor downregu...	Fitness & Body	Heart Disease	Strong
rs30021	SNX24 VEGFA Vascular Growth Co-variant	Intronic variant in SNX24 (sorting nexin 24) with roles in vascular endotheli...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Emerging
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
rs688	LDLR Asn591Asn (c.1773C>T)	Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor ...	Atherogenic Lipoproteins	Heart Disease	Strong
rs1801253	ADRB1 Arg389Gly	Beta-1 adrenergic receptor variant where Arg389 produces higher basal activit...	Fitness & Body	Heart Disease	Strong
rs1927911	TLR4	Intronic TLR4 variant in the innate immune receptor gene; the A allele associ...	Vascular Inflammation & Remodeling	Heart Disease	Moderate
rs371898076	MYH7 Arg663His (R663H)	Pathogenic missense variant in the myosin motor domain causing hypertrophic c...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs61748497	VWF C1060R	Pathogenic missense in the VWF D3 domain that abolishes factor VIII binding; ...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Established
rs375882485	MYBPC3 Arg502Trp	Pathogenic missense variant in the C3 domain of cardiac myosin-binding protei...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs5335	EDNRA	3' UTR variant in the endothelin receptor type A gene associated with ambulat...	Blood Pressure & Hypertension	Heart Disease	Moderate
rs3900940	MYH15 T1105A	Missense variant in MYH15 encoding a Thr1105Ala substitution in myosin heavy ...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs549476	NEDD4L	Intronic NEDD4L variant influencing ubiquitin ligase isoform expression and s...	Blood Pressure & Hypertension	Heart Disease	Moderate
rs730882094	LDLR Asn316Ser (N316S)	Rare likely-pathogenic missense variant in the LDLR EGF-like repeat domain ca...	Atherogenic Lipoproteins	Heart Disease	Strong
rs396514912	OBSCN Protein-truncating variant	Protein-truncating frameshift deletion in obscurin; homozygous or compound he...	Cardiomyopathy & Structural Heart	Heart Disease	Moderate
rs730882105	LDLR p.Val524Met	Rare LDLR missense variant (c.1570G>A, p.Val524Met) associated with familial ...	Atherogenic Lipoproteins	Heart Disease	Moderate
rs28934568	TGFBR2	Pathogenic missense variant in TGFBR2 (Leu308Pro) causing Loeys-Dietz syndrom...	Vascular Inflammation & Remodeling	Heart Disease	Established
rs397514752	MYBPC3 Gly490Val	Ultra-rare autosomal recessive MYBPC3 missense variant; homozygotes develop s...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs763625913	LDLR Q770* (c.2308C>T)	Rare pathogenic nonsense variant in the LDL receptor gene that abolishes rece...	Atherogenic Lipoproteins	Heart Disease	Established
rs28936687	ACVRL1	Pathogenic missense variant in ALK1 kinase domain causing hereditary hemorrha...	Vascular Inflammation & Remodeling	Heart Disease	Established
rs3918242	MMP9 MMP9 C-1562T	Promoter variant that disrupts an SP1 transcription factor binding site, incr...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs397515953	MYBPC3	Rare pathogenic/likely pathogenic missense variant in the C5 immunoglobulin-l...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs397516127	MYH7 Arg663Cys (R663C)	Pathogenic missense variant in the beta-myosin heavy chain motor domain causi...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs4537545	IL6R IL6R intron variant	Intronic IL6R variant in linkage disequilibrium with the functional Asp358Ala...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs61750612	VWF R1853X	Nonsense mutation creating a premature stop codon at position 1853 of von Wil...	Von Willebrand & Anticoagulant Proteins	Heart Disease	Established
rs8094327	NEDD4L	Intronic NEDD4L variant tagging the haplotype block that modulates ENaC sodiu...	Blood Pressure & Hypertension	Heart Disease	Moderate
rs397516394	TPM1 Met281Val	Ultra-rare TPM1 missense variant of uncertain significance found in hypertrop...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs4888378	CFDP1	Intronic CFDP1 locus variant that regulates BCAR1 expression in vascular tiss...	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
rs3091244	CRP -286C>T>A	Triallelic promoter variant that strongly influences basal CRP transcription;...	Vascular Inflammation & Remodeling	Heart Disease	Strong
rs397516406	MYL2 G162E (Gly162Glu)	Pathogenic missense variant in the ventricular regulatory myosin light chain ...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs397516407	MYL2 Glu163Ala	Pathogenic missense variant in the regulatory myosin light chain gene; hetero...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs501120	CXCL12	Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevat...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs397516919	DSP DSP Trp550Ter	Nonsense variant in desmoplakin that truncates the protein at codon 550, caus...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs4073	IL8 -251A>T	Promoter variant affecting interleukin-8 transcription and inflammatory burden	Vascular Inflammation & Remodeling	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
rs397516923	DSP DSP Q72Ter	Rare truncating variant in desmoplakin that creates a premature stop codon at...	Cardiomyopathy & Structural Heart	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
rs397516929	DSP Ser987Pro	Rare missense variant in desmoplakin that likely disrupts desmosomal integrit...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs57035593	TC2N	Intronic variant in TC2N (tandem C2 domains, nuclear) robustly associated wit...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs397516933	DSP DSP Gln1277Ter	Nonsense variant in desmoplakin that truncates the protein at codon 1277, cau...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs619203	ROS1 Ser2229Cys	Missense variant in the ROS1 receptor tyrosine kinase associated with atherot...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Emerging
rs397516943	DSP	Pathogenic DSP nonsense variant creating a premature stop codon at position 1...	Cardiomyopathy & Structural Heart	Heart Disease	Established
rs5888	SCARB1	Synonymous variant that reduces SR-BI receptor expression and impairs HDL cho...	Cholesterol & Lipoproteins	Heart Disease	Moderate
rs397516946	DSP DSP Q1810X	Pathogenic stop-gain in desmoplakin's tail domain; one copy truncates the pro...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs6922269	MTHFD1L	Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with ...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Strong
rs2280275	CYP2J2	Intronic variant in CYP2J2 that tags reduced epoxyeicosatrienoic acid (EET) p...	Pharmacogenomics	Heart Disease	Moderate
rs41309766	NOTCH1 c.4512del (p.Cys1505fs)	Pathogenic frameshift deletion in NOTCH1 causing haploinsufficiency; carriers...	Cardiomyopathy & Structural Heart	Heart Disease	Strong
rs700651	BOLL	Intronic variant near the BOLL gene associated with increased intracranial an...	Coronary Artery Disease & Atherosclerosis	Heart Disease	Moderate
rs4855559	MYH15	Intronic variant in the myosin heavy chain 15 gene associated with impaired c...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
rs7025486	DAB2IP DAB2IP intron variant	Intronic variant in DAB2IP associated with increased risk of abdominal aortic...	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
rs71180793	OBSCN OBSCN c.23838del	Frameshift deletion in obscurin, a giant sarcomeric scaffold protein; heteroz...	Cardiomyopathy & Structural Heart	Heart Disease	Emerging
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
rs4775065	LIPC	Intronic LIPC variant associated with susceptibility to low HDL-C and coronar...	Triglycerides & Fatty Acids	Heart Disease	Moderate