Tag

Blood Pressure

65 genetic variants with this tag.

RSID	Gene	Description	Category
rs1008899	NEDD4L	Intronic NEDD4L variant tagging isoforms with differing ENaC ubiquitination c...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs1036477	FBN1	Deep intronic FBN1 variant associated with larger ascending aortic dimensions...	Cardiomyopathy & Structural Heart	Blood Pressure	Strong
rs10177833	SLC4A5	Intronic variant in the sodium bicarbonate cotransporter gene strongly associ...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs10918594	NOS1AP	Regulatory variant upstream of NOS1AP (CAPON) associated with QT interval pro...	Arrhythmia & Heart Rhythm	Blood Pressure	Strong
rs10841496	PDE3A	5' UTR variant in phosphodiesterase 3A that may alter PDE3A expression, affec...	Blood Pressure & Hypertension	Blood Pressure	Emerging
rs11556924	ZC3HC1 R363H	Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363...	Coronary Artery Disease & Atherosclerosis	Blood Pressure	Strong
rs10882398	PLCE1	Intronic PLCE1 variant where the A allele raises systolic blood pressure and ...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs1173771	NPR3 NPR3 promoter variant	Regulatory variant near the NPR3 transcription start site that reduces natriu...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs12402521	PDC	Intronic PDC variant in the phosducin gene — G homozygotes show 12–15 mmHg hi...	Coronary Artery Disease & Atherosclerosis	Blood Pressure	Moderate
rs12606138	NEDD4L	Intronic variant in NEDD4L associated with reading ability and dyslexia susce...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs10958409	SOX17	Intergenic variant near SOX17 at 8q11 that reduces expression of this endothe...	Vascular Inflammation & Remodeling	Blood Pressure	Strong
rs17249754	ATP2B1	Intronic variant in the ATP2B1 calcium pump gene; the common G allele reduces...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs11572325	CYP2J2	Intronic CYP2J2 variant associated with increased myocardial infarction risk ...	Vascular Inflammation & Remodeling	Blood Pressure	Moderate
rs1743963	SGK1	Intronic SGK1 variant associated with depression susceptibility in coronary h...	Blood Pressure & Hypertension	Blood Pressure	Emerging
rs13154066	NPR3	Regulatory variant near the NPR3 natriuretic peptide clearance receptor gene ...	Endometriosis & Uterine Health	Blood Pressure	Strong
rs1799998	CYP11B2 -344C>T	Promoter variant in aldosterone synthase increasing CYP11B2 transcription, as...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs2004776	AGT	Intronic regulatory variant in angiotensinogen intron I that enhances HNF3β t...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs2911463	PIEZO1	Intronic variant in PIEZO1, the endothelial mechanosensory ion channel that s...	Arrhythmia & Heart Rhythm	Blood Pressure	Strong
rs2070699	EDN1 EDN1 G2288T Intronic Variant	Intronic EDN1 variant modulating endothelin-1 expression; the T allele associ...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs2270915	NPR3 N521D	Missense variant in NPR3 clearance receptor disrupting Gi protein coupling, i...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs2681472	ATP2B1	Intronic regulatory variant near the PMCA1 calcium pump gene, one of the most...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs35929607	STK39	Intronic variant in the SPAK kinase gene that has been studied for associatio...	Blood Pressure & Hypertension	Blood Pressure	Emerging
rs3754777	STK39	Intronic STK39 variant that increases SPAK kinase expression, enhancing phosp...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs17514846	FURIN	Intronic regulatory variant modulating FURIN expression via allele-specific D...	Coronary Artery Disease & Atherosclerosis	Blood Pressure	Strong
rs3755351	ADD2	Intronic variant in beta-adducin modulating renal Na+/K+-ATPase trafficking a...	Blood Pressure & Hypertension	Blood Pressure	Emerging
rs4220	FGB Arg448Lys (R448K)	Missense variant in the fibrinogen beta chain that elevates circulating fibri...	Coagulation & Clotting Factors	Blood Pressure	Moderate
rs3865418	NEDD4L	Intronic NEDD4L variant that tags reduced ubiquitin-ligase activity toward th...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs1805762	M6PR	Intronic M6PR variant associated with modest hypertension risk in East Asian ...	Coronary Artery Disease & Atherosclerosis	Blood Pressure	Emerging
rs2883929	NR3C2 NR3C2 I3 intron variant	Intronic variant in the mineralocorticoid receptor gene associated with alter...	Reproductive Hormones	Blood Pressure	Moderate
rs3910053	NR3C2	Intronic NR3C2 variant associated with salt sensitivity of blood pressure and...	Blood Pressure & Hypertension	Blood Pressure	Emerging
rs4253238	KLKB1 KLKB1 intronic variant	Intronic KLKB1 variant whose T allele elevates plasma kallikrein enzymatic ac...	Coagulation & Clotting Factors	Blood Pressure	Moderate
rs6997709	KCNK9	Intergenic variant upstream of KCNK9 (TASK3 potassium channel) associated wit...	Arrhythmia & Heart Rhythm	Blood Pressure	Moderate
rs3918226	NOS3	NOS3 promoter variant that reduces eNOS expression and increases hypertension...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs3889728	AGT AGT Intronic Variant	Intronic variant in the angiotensinogen (AGT) gene; the T allele has been inc...	Reproductive Hormones	Blood Pressure	Emerging
rs4762	AGT T174M	Missense variant in angiotensinogen that increases AGT protein levels and rai...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs4961	ADD1 Gly460Trp	Alpha-adducin missense variant that increases renal tubular sodium reabsorpti...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs5051	AGT G-6A	Promoter variant that increases angiotensinogen gene transcription, raising p...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs5068	NPPA	3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic pe...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs3184504	SH2B3 R262W	Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing b...	Coronary Artery Disease & Atherosclerosis	Blood Pressure	Strong
rs5186	AGTR1 A1166C	3' UTR variant in angiotensin II type 1 receptor affecting blood pressure reg...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs5335	EDNRA	3' UTR variant in the endothelin receptor type A gene associated with ambulat...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs549476	NEDD4L	Intronic NEDD4L variant influencing ubiquitin ligase isoform expression and s...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs6841581	EDNRA	Regulatory variant upstream of the endothelin receptor type A gene that reduc...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs1934953	CYP2C8	Intronic CYP2C8 variant linked to epoxygenase pathway activity, hypertension ...	Pharmacogenomics	Blood Pressure	Emerging
rs7305099	WNK1 WNK1 intronic variant	Intronic WNK1 variant where the G allele is associated with increased essenti...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs28936687	ACVRL1	Pathogenic missense variant in ALK1 kinase domain causing hereditary hemorrha...	Vascular Inflammation & Remodeling	Blood Pressure	Established
rs7571842	SLC4A5	Intronic variant in the renal sodium-bicarbonate cotransporter gene SLC4A5 as...	Blood Pressure & Hypertension	Blood Pressure	Strong
rs16989673	PTPN1 1484insG	A guanine duplication in the 3'-UTR of PTPN1 (PTP1B) that increases mRNA stab...	Blood Sugar & Diabetes	Blood Pressure	Moderate
rs8094327	NEDD4L	Intronic NEDD4L variant tagging the haplotype block that modulates ENaC sodiu...	Blood Pressure & Hypertension	Blood Pressure	Moderate
rs374304304	ASL ASL Arg94Cys	Pathogenic missense variant in argininosuccinate lyase that reduces urea cycl...	Metabolic Enzymes & Rare Disorders	Blood Pressure	Established
rs77924615	UMOD PDILT-UMOD regulatory variant	Intronic regulatory variant physically located in PDILT that controls uromodu...	Uric Acid & Kidney Function	Blood Pressure	Strong
rs61753993	VWF D141G	Missense variant in von Willebrand factor (p.Asp141Gly) associated with type ...	Von Willebrand & Anticoagulant Proteins	Blood Pressure	Moderate
rs2651899	PRDM16	Intronic variant in the master regulator of brown/beige fat differentiation, ...	Fat Storage & Energy	Blood Pressure	Moderate
rs932764	PLCE1	Intronic variant in PLCE1 (phospholipase C epsilon 1) associated with elevate...	Endometriosis & Uterine Health	Blood Pressure	Strong
rs2280275	CYP2J2	Intronic variant in CYP2J2 that tags reduced epoxyeicosatrienoic acid (EET) p...	Pharmacogenomics	Blood Pressure	Moderate
rs700651	BOLL	Intronic variant near the BOLL gene associated with increased intracranial an...	Coronary Artery Disease & Atherosclerosis	Blood Pressure	Moderate
rs2758151	SGK1	Regulatory tagging SNP near SGK1 (serum/glucocorticoid regulated kinase 1) — ...	Blood Sugar & Diabetes	Blood Pressure	Moderate
rs699	AGT M235T	Angiotensinogen level variant affecting blood pressure, sodium sensitivity, a...	Fitness & Body	Blood Pressure	Strong
rs5443	GNB3 C825T	Synonymous exon-10 variant that triggers alternative splicing of the G-protei...	Hormones & Sleep	Blood Pressure	Strong
rs822391	ADIPOQ IVS1+407C>T	Intronic variant in the adiponectin gene associated with circulating adiponec...	Fat Storage & Energy	Blood Pressure	Moderate
rs653178	SH2B3 ATXN2/SH2B3 12q24 pleiotropic locus	Pleiotropic 12q24 locus variant in SH2B3 (LNK) modulating JAK-STAT cytokine s...	Blood Sugar & Diabetes	Blood Pressure	Strong
rs891512	NOS3	Intronic NOS3 variant that alters splicing factor binding and is associated w...	Methylation & Detox	Blood Pressure	Moderate
rs9402571	SGK1	Regulatory variant in SGK1 (serum/glucocorticoid regulated kinase 1) — the mi...	Blood Sugar & Diabetes	Blood Pressure	Moderate
rs67338227	FHL5	Intronic variant in FHL5 (four and a half LIM domains 5), a transcriptional c...	Neurology & Cognition	Blood Pressure	Strong
rs9349379	PHACTR1	Intronic regulatory variant in PHACTR1 that controls endothelin-1 and arteria...	Neurology & Cognition	Blood Pressure	Strong