Tag

Metabolic Syndrome

35 genetic variants with this tag.

RSID	Gene	Description	Category
rs10482605	NR3C1	NR3C1 promoter variant reducing glucocorticoid receptor transcription; G alle...	Longevity & Aging	Metabolic Syndrome	Moderate
rs1063537	ADIPOQ	3'UTR variant in ADIPOQ that modulates adiponectin mRNA stability; the common...	Fat Storage & Energy	Metabolic Syndrome	Moderate
rs13236689	CD36	Intronic CD36 variant that acts as a platelet eQTL, modulating CD36 surface e...	Triglycerides & Fatty Acids	Metabolic Syndrome	Moderate
rs1137101	LEPR Q223R (Gln223Arg)	Common leptin receptor variant in the leptin-binding domain affecting satiety...	Hormones & Sleep	Metabolic Syndrome	Moderate
rs12478601	THADA THADA PCOS/Insulin Resistance	Intronic variant in THADA (thyroid adenoma associated) on chromosome 2p21; th...	Fertility & Ovarian Function	Metabolic Syndrome	Strong
rs12086634	HSD11B1 Intron 3 variant	Modulates local cortisol activation from cortisone in liver and adipose tissu...	Hormones & Sleep	Metabolic Syndrome	Moderate
rs4240624	PPP1R3B Near-gene variant	Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevat...	Liver Fat	Metabolic Syndrome	Strong
rs4841132	PPP1R3B	Near-gene PPP1R3B variant used as primary tagging SNP in the Stender 2018 stu...	Liver Fat	Metabolic Syndrome	Strong
rs1175543	PPARG PPARG rs1175543	Intronic PPARG variant in strong linkage disequilibrium with rs709158; the G ...	Fat Storage & Energy	Metabolic Syndrome	Emerging
rs1143699	PTPRS PTPRS C/T (rs1143699)	Synonymous PTPRS variant associated with increased type 2 diabetes risk in me...	Blood Sugar & Diabetes	Metabolic Syndrome	Moderate
rs11708067	ADCY5 ADCY5 Glucose Signaling Variant	Intronic regulatory variant that reduces ADCY5 expression in pancreatic islet...	Blood Sugar & Diabetes	Metabolic Syndrome	Strong
rs12490265	PPARG PPARG Intronic Haplotype Variant	Intronic PPARG variant in a metabolic syndrome–associated haplotype block; th...	Fat Storage & Energy	Metabolic Syndrome	Emerging
rs1800872	IL10 -592 C>A	Promoter variant affecting IL-10 production — a key anti-inflammatory cytokin...	Vascular Inflammation & Remodeling	Metabolic Syndrome	Strong
rs16861194	ADIPOQ -11426A>G	Upstream promoter variant that reduces ADIPOQ transcription, lowering circula...	Fat Storage & Energy	Metabolic Syndrome	Moderate
rs1799941	SHBG	Promoter region variant affecting sex hormone-binding globulin levels, with t...	Hormones & Sleep	Metabolic Syndrome	Strong
rs17482753	LPL LPL G>T (Intergenic Variant)	Intergenic variant near the lipoprotein lipase gene on 8p21.3 with an indepen...	Triglycerides & Fatty Acids	Metabolic Syndrome	Moderate
rs5068	NPPA	3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic pe...	Blood Pressure & Hypertension	Metabolic Syndrome	Strong
rs1402837	G6PC2 G6PC2 Fasting Glucose Variant	Upstream regulatory variant in G6PC2 that modulates pancreatic beta-cell gluc...	Blood Sugar & Diabetes	Metabolic Syndrome	Strong
rs1797912	PPARG PPARG intronic haplotype variant	Intronic PPARG variant in the same haplotype block as rs1175543; the C allele...	Fat Storage & Energy	Metabolic Syndrome	Emerging
rs489693	MC4R MC4R AIWG variant	Intergenic variant near MC4R with genome-wide significant association with an...	Appetite & Obesity	Metabolic Syndrome	Strong
rs727428	SHBG SHBG +1091 C>T	Regulatory variant 1 kb downstream of the SHBG gene that reduces sex hormone-...	Reproductive Hormones	Metabolic Syndrome	Strong
rs41423247	NR3C1 BclI	Intronic glucocorticoid receptor variant affecting cortisol sensitivity and s...	Mood & Behavior	Metabolic Syndrome	Strong
rs2241767	ADIPOQ +349A>G	Intronic variant in the adiponectin gene associated with lower circulating ad...	Fat Storage & Energy	Metabolic Syndrome	Moderate
rs1800961	HNF4A Thr130Ile	Missense variant in HNF4A causing hepatocyte-specific loss of transcriptional...	Blood Sugar & Diabetes	Metabolic Syndrome	Moderate
rs696217	GHRL Leu72Met	Missense variant in the ghrelin prepropeptide that impairs postprandial ghrel...	Appetite & Obesity	Metabolic Syndrome	Moderate
rs2059807	INSR INSR intronic variant	Intronic INSR variant associated with PCOS susceptibility and metabolic syndr...	Blood Sugar & Diabetes	Metabolic Syndrome	Moderate
rs367643250	DYRK1B R102C	Rare gain-of-function variant causing autosomal dominant metabolic syndrome (...	Blood Sugar & Diabetes	Metabolic Syndrome	Strong
rs4783244	CDH13	Intronic CDH13 variant altering T-cadherin expression; T allele carriers have...	Triglycerides & Fatty Acids	Metabolic Syndrome	Strong
rs4807015	PTPRS PTPRS T2D risk variant	Intronic PTPRS variant that tags elevated type 2 diabetes risk in both sexes ...	Blood Sugar & Diabetes	Metabolic Syndrome	Moderate
rs5443	GNB3 C825T	Synonymous exon-10 variant that triggers alternative splicing of the G-protei...	Hormones & Sleep	Metabolic Syndrome	Strong
rs587777380	DYRK1B H90P / H90R	Multi-allelic pathogenic locus — both H90P (T>G) and H90R (T>C) disrupt the D...	Blood Sugar & Diabetes	Metabolic Syndrome	Strong
rs6814664	SLC2A9 SLC2A9 Uric Acid Transport Variant	Intronic SLC2A9 variant tagging a regulatory signal for renal urate reabsorpt...	Blood Sugar & Diabetes	Metabolic Syndrome	Moderate
rs6815001	SLC2A9 SLC2A9 Renal Urate Clearance Variant	Intronic variant in the major renal urate transporter; the G allele tags a ha...	Blood Sugar & Diabetes	Metabolic Syndrome	Strong
rs914458	PTPN1 PTPN1 downstream variant	Downstream regulatory variant 10 kb 3' of PTPN1 (PTP1B) associated with type ...	Blood Sugar & Diabetes	Metabolic Syndrome	Emerging
rs941798	PTPN1	Intronic PTPN1 variant tagging a haplotype block associated with reduced insu...	Blood Sugar & Diabetes	Metabolic Syndrome	Moderate