Tag

Hypertension

54 genetic variants with this tag.

RSID	Gene	Description	Category
rs1008899	NEDD4L	Intronic NEDD4L variant tagging isoforms with differing ENaC ubiquitination c...	Blood Pressure & Hypertension	Hypertension	Moderate
rs10177833	SLC4A5	Intronic variant in the sodium bicarbonate cotransporter gene strongly associ...	Blood Pressure & Hypertension	Hypertension	Strong
rs104894135	CYP17A1 Ser106Pro	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Hypertension	Established
rs104894136	CYP17A1 Arg239*	Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at ...	Reproductive Hormones	Hypertension	Established
rs104894137	CYP17A1 Pro342Thr	Missense variant in CYP17A1 reducing both 17α-hydroxylase and 17,20-lyase act...	Reproductive Hormones	Hypertension	Strong
rs10841496	PDE3A	5' UTR variant in phosphodiesterase 3A that may alter PDE3A expression, affec...	Blood Pressure & Hypertension	Hypertension	Emerging
rs104894138	CYP17A1 Arg96Trp (R96W)	Pathogenic missense variant abolishing 17α-hydroxylase/17,20-lyase activity, ...	Reproductive Hormones	Hypertension	Established
rs1060502576	BMPR2	Rare stop-gain variant in BMPR2 (p.Trp466Ter) that truncates the kinase domai...	Vascular Inflammation & Remodeling	Hypertension	Established
rs10882398	PLCE1	Intronic PLCE1 variant where the A allele raises systolic blood pressure and ...	Blood Pressure & Hypertension	Hypertension	Strong
rs104894141	CYP17A1 W17X	Rare pathogenic nonsense variant in CYP17A1 causing complete abolition of 17α...	Reproductive Hormones	Hypertension	Established
rs1060502581	BMPR2	Nonsense variant in BMPR2 introducing a premature stop codon (p.Arg321Ter) th...	Vascular Inflammation & Remodeling	Hypertension	Established
rs1173771	NPR3 NPR3 promoter variant	Regulatory variant near the NPR3 transcription start site that reduces natriu...	Blood Pressure & Hypertension	Hypertension	Strong
rs12402521	PDC	Intronic PDC variant in the phosducin gene — G homozygotes show 12–15 mmHg hi...	Coronary Artery Disease & Atherosclerosis	Hypertension	Moderate
rs12606138	NEDD4L	Intronic variant in NEDD4L associated with reading ability and dyslexia susce...	Blood Pressure & Hypertension	Hypertension	Moderate
rs17249754	ATP2B1	Intronic variant in the ATP2B1 calcium pump gene; the common G allele reduces...	Blood Pressure & Hypertension	Hypertension	Strong
rs12917707	UMOD	Uromodulin promoter variant — strongest GWAS signal for chronic kidney diseas...	Uric Acid & Kidney Function	Hypertension	Established
rs1799998	CYP11B2 -344C>T	Promoter variant in aldosterone synthase increasing CYP11B2 transcription, as...	Blood Pressure & Hypertension	Hypertension	Moderate
rs2004776	AGT	Intronic regulatory variant in angiotensinogen intron I that enhances HNF3β t...	Blood Pressure & Hypertension	Hypertension	Strong
rs2270915	NPR3 N521D	Missense variant in NPR3 clearance receptor disrupting Gi protein coupling, i...	Blood Pressure & Hypertension	Hypertension	Moderate
rs2681472	ATP2B1	Intronic regulatory variant near the PMCA1 calcium pump gene, one of the most...	Blood Pressure & Hypertension	Hypertension	Strong
rs35929607	STK39	Intronic variant in the SPAK kinase gene that has been studied for associatio...	Blood Pressure & Hypertension	Hypertension	Emerging
rs3754777	STK39	Intronic STK39 variant that increases SPAK kinase expression, enhancing phosp...	Blood Pressure & Hypertension	Hypertension	Moderate
rs3755351	ADD2	Intronic variant in beta-adducin modulating renal Na+/K+-ATPase trafficking a...	Blood Pressure & Hypertension	Hypertension	Emerging
rs3865418	NEDD4L	Intronic NEDD4L variant that tags reduced ubiquitin-ligase activity toward th...	Blood Pressure & Hypertension	Hypertension	Moderate
rs1805762	M6PR	Intronic M6PR variant associated with modest hypertension risk in East Asian ...	Coronary Artery Disease & Atherosclerosis	Hypertension	Emerging
rs3910053	NR3C2	Intronic NR3C2 variant associated with salt sensitivity of blood pressure and...	Blood Pressure & Hypertension	Hypertension	Emerging
rs4293393	UMOD	UMOD promoter variant affecting uromodulin expression, linked to CKD, salt-se...	Uric Acid & Kidney Function	Hypertension	Established
rs6997709	KCNK9	Intergenic variant upstream of KCNK9 (TASK3 potassium channel) associated wit...	Arrhythmia & Heart Rhythm	Hypertension	Moderate
rs3918226	NOS3	NOS3 promoter variant that reduces eNOS expression and increases hypertension...	Blood Pressure & Hypertension	Hypertension	Strong
rs3889728	AGT AGT Intronic Variant	Intronic variant in the angiotensinogen (AGT) gene; the T allele has been inc...	Reproductive Hormones	Hypertension	Emerging
rs4762	AGT T174M	Missense variant in angiotensinogen that increases AGT protein levels and rai...	Blood Pressure & Hypertension	Hypertension	Moderate
rs482843	CTH	Intronic CTH variant where GG homozygotes show significantly elevated preecla...	Blood Pressure & Hypertension	Hypertension	Moderate
rs1800764	ACE Promoter T>C	Upstream promoter-region ACE variant on a separate LD block from the I/D poly...	Fitness & Body	Hypertension	Moderate
rs4961	ADD1 Gly460Trp	Alpha-adducin missense variant that increases renal tubular sodium reabsorpti...	Blood Pressure & Hypertension	Hypertension	Strong
rs5051	AGT G-6A	Promoter variant that increases angiotensinogen gene transcription, raising p...	Blood Pressure & Hypertension	Hypertension	Strong
rs1801252	ADRB1 Ser49Gly	Beta-1 adrenergic receptor variant at position 49 affecting receptor downregu...	Fitness & Body	Hypertension	Strong
rs5068	NPPA	3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic pe...	Blood Pressure & Hypertension	Hypertension	Strong
rs1801253	ADRB1 Arg389Gly	Beta-1 adrenergic receptor variant where Arg389 produces higher basal activit...	Fitness & Body	Hypertension	Strong
rs5186	AGTR1 A1166C	3' UTR variant in angiotensin II type 1 receptor affecting blood pressure reg...	Blood Pressure & Hypertension	Hypertension	Moderate
rs5335	EDNRA	3' UTR variant in the endothelin receptor type A gene associated with ambulat...	Blood Pressure & Hypertension	Hypertension	Moderate
rs549476	NEDD4L	Intronic NEDD4L variant influencing ubiquitin ligase isoform expression and s...	Blood Pressure & Hypertension	Hypertension	Moderate
rs2881766	ESR1 ESR1 intron variant	Intronic variant in estrogen receptor alpha that alters ESR1 expression and h...	Vascular Inflammation & Remodeling	Hypertension	Moderate
rs7305099	WNK1 WNK1 intronic variant	Intronic WNK1 variant where the G allele is associated with increased essenti...	Blood Pressure & Hypertension	Hypertension	Moderate
rs7571842	SLC4A5	Intronic variant in the renal sodium-bicarbonate cotransporter gene SLC4A5 as...	Blood Pressure & Hypertension	Hypertension	Strong
rs760695410	CYP17A1 p.His373Leu	Pathogenic missense variant in CYP17A1 disrupting the heme-binding region of ...	Reproductive Hormones	Hypertension	Established
rs8094327	NEDD4L	Intronic NEDD4L variant tagging the haplotype block that modulates ENaC sodiu...	Blood Pressure & Hypertension	Hypertension	Moderate
rs841	GCH1	Intronic/3'UTR GCH1 variant tagging reduced tetrahydrobiopterin (BH4) synthes...	Blood Pressure & Hypertension	Hypertension	Moderate
rs77924615	UMOD PDILT-UMOD regulatory variant	Intronic regulatory variant physically located in PDILT that controls uromodu...	Uric Acid & Kidney Function	Hypertension	Strong
rs3093059	CRP -757T>C	Promoter variant that elevates baseline C-reactive protein levels, increasing...	Vascular Inflammation & Remodeling	Hypertension	Strong
rs1808593	NOS3	Intronic NOS3 variant associated with ankle-brachial index and peripheral art...	Methylation & Detox	Hypertension	Moderate
rs2758151	SGK1	Regulatory tagging SNP near SGK1 (serum/glucocorticoid regulated kinase 1) — ...	Blood Sugar & Diabetes	Hypertension	Moderate
rs2297839	CHI3L1 CHI3L1 Intron Variant	Intronic variant in CHI3L1 associated with circulating YKL-40 levels and modu...	Allergy & Atopic Disease	Hypertension	Emerging
rs5443	GNB3 C825T	Synonymous exon-10 variant that triggers alternative splicing of the G-protei...	Hormones & Sleep	Hypertension	Strong
rs891512	NOS3	Intronic NOS3 variant that alters splicing factor binding and is associated w...	Methylation & Detox	Hypertension	Moderate