Tag

Metabolic Health

78 genetic variants with this tag.

RSID	Gene	Description	Category
rs10010131	WFS1 WFS1 Intron 4 T2D Risk Variant	Intronic variant in WFS1 (wolframin) on chromosome 4q22, one of the earliest ...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs1044471	ADIPOR2 ADIPOR2 3'UTR variant	A common 3'UTR variant in the liver-expressed adiponectin receptor 2 gene; th...	Fat Storage & Energy	Metabolic Health	Moderate
rs1058322	ADIPOR2	Intronic ADIPOR2 variant whose T allele reduces receptor expression in immune...	Fat Storage & Energy	Metabolic Health	Moderate
rs1059369	GDF15 S48T	GDF15 signal-peptide missense variant that tags a haplotype influencing circu...	Fat Storage & Energy	Metabolic Health	Moderate
rs1044498	ENPP1 K121Q	ENPP1 K121Q variant that increases ENPP1 binding affinity to the insulin rece...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs10848554	ADIPOR2	Intronic ADIPOR2 variant co-associated with cardiovascular disease risk in in...	Fat Storage & Energy	Metabolic Health	Moderate
rs11037909	EXT2	Intronic EXT2 variant associated with a modest increase in type 2 diabetes su...	Appetite & Obesity	Metabolic Health	Moderate
rs11061937	ADIPOR2 ADIPOR2 rs11061937	Intronic ADIPOR2 variant associated with cardiovascular disease risk in indiv...	Fat Storage & Energy	Metabolic Health	Moderate
rs11061946	ADIPOR2	Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed ...	Fat Storage & Energy	Metabolic Health	Emerging
rs104894011	GCK Glu265Lys (MODY2)	Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting ...	Blood Sugar & Diabetes	Metabolic Health	Established
rs11644943	FTO FTO Mid-Gene Intron Variant	An intronic FTO variant outside the well-known intron-1 obesity cluster; the ...	Appetite & Obesity	Metabolic Health	Emerging
rs1151996	PPARG PPARG rs1151996	Intronic PPARG variant significantly associated with circulating vitamin D le...	Fat Storage & Energy	Metabolic Health	Moderate
rs10885406	TCF7L2 TCF7L2 Wnt Signaling Depth Variant	Intronic TCF7L2 variant tagging the diabetes-risk haplotype and associated wi...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs116862713	PRKAB1	Rare AMPK beta-1 subunit variant linking central energy sensing to shared mig...	Fat Storage & Energy	Metabolic Health	Emerging
rs10954640	ENPP1 ENPP1 3'UTR Variant	Intergenic variant near ENPP1-associated regulatory loci; T allele is associa...	Blood Sugar & Diabetes	Metabolic Health	Emerging
rs1175543	PPARG PPARG rs1175543	Intronic PPARG variant in strong linkage disequilibrium with rs709158; the G ...	Fat Storage & Energy	Metabolic Health	Emerging
rs1330	NUCB2	Intronic NUCB2 variant associated with obesity risk in males, type 2 diabetes...	Hormones & Sleep	Metabolic Health	Moderate
rs1175544	PPARG PPARG rs1175544	Intronic PPARG variant that accounts for ~7% of individual variation in body ...	Fat Storage & Energy	Metabolic Health	Emerging
rs563694	ABCB11 G6PC2/ABCB11 fasting glucose locus	Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula...	Liver Fat	Metabolic Health	Strong
rs11558471	SLC30A8 SLC30A8 Zinc Transport Depth Variant	3-prime UTR variant in the SLC30A8 zinc transporter gene that alters ZnT8 mRN...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs184660829	DENND2C	Rare intronic variant near a DENND2C splice site associated with an 8-fold in...	Appetite & Obesity	Metabolic Health	Moderate
rs12304921	SLC11A2	Intronic variant in SLC11A2 (DMT1), the primary intestinal iron transporter, ...	Fat Storage & Energy	Metabolic Health	Emerging
rs2229616	MC4R V103I	Missense variant in MC4R converting valine to isoleucine at position 103; the...	Appetite & Obesity	Metabolic Health	Strong
rs11708067	ADCY5 ADCY5 Glucose Signaling Variant	Intronic regulatory variant that reduces ADCY5 expression in pancreatic islet...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs12490265	PPARG PPARG Intronic Haplotype Variant	Intronic PPARG variant in a metabolic syndrome–associated haplotype block; th...	Fat Storage & Energy	Metabolic Health	Emerging
rs17493811	AGER	Tag SNP in the AGER 3′ downstream region associated with increased type 1 dia...	Hormones & Sleep	Metabolic Health	Moderate
rs16861194	ADIPOQ -11426A>G	Upstream promoter variant that reduces ADIPOQ transcription, lowering circula...	Fat Storage & Energy	Metabolic Health	Moderate
rs2922126	GHSR GHSR A/G (rs2922126)	Upstream regulatory variant near the ghrelin receptor gene; the A allele is a...	Appetite & Obesity	Metabolic Health	Moderate
rs16861205	ADIPOQ	Intronic ADIPOQ variant in LD with the promoter region; the minor A allele is...	Fat Storage & Energy	Metabolic Health	Moderate
rs2361502	MROH2A	Intronic variant adjacent to the UGT1A gene cluster; C allele tags elevated s...	Metabolic Enzymes & Rare Disorders	Metabolic Health	Moderate
rs4784165	TOX3 TOX3 rs4784165	Intronic PCOS susceptibility variant near TOX3; the G allele is associated wi...	Fertility & Ovarian Function	Metabolic Health	Moderate
rs16928751	ADIPOR2 ADIPOR2 CVD co-association variant	Synonymous coding variant in ADIPOR2 (Q265Q) that was co-associated with card...	Fat Storage & Energy	Metabolic Health	Emerging
rs1402837	G6PC2 G6PC2 Fasting Glucose Variant	Upstream regulatory variant in G6PC2 that modulates pancreatic beta-cell gluc...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs1495377	TSPAN8	Intronic variant in TSPAN8 (Tetraspanin 8) associated with reduced insulin se...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs1797912	PPARG PPARG intronic haplotype variant	Intronic PPARG variant in the same haplotype block as rs1175543; the C allele...	Fat Storage & Energy	Metabolic Health	Emerging
rs1884614	HNF4A HNF4A P2 Promoter rs1884614	Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele i...	Hormones & Sleep	Metabolic Health	Moderate
rs1991517	TSHR Asp727Glu	Affects TSH receptor sensitivity and thyroid hormone regulation; influences T...	Hormones & Sleep	Metabolic Health	Strong
rs490683	GHSR GHSR Promoter NF-1 Site Variant	Promoter variant in the ghrelin receptor gene that disrupts NF-1 transcriptio...	Appetite & Obesity	Metabolic Health	Moderate
rs1562444	MTNR1B MTNR1B 3'UTR Melatonin Signaling Variant	Regulatory 3'UTR variant in the melatonin receptor 1B gene that affects MTNR1...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs2016105	ELK3 ELK3 TSH regulatory variant	Intronic regulatory variant in ELK3 influencing circulating TSH levels and hy...	Hormones & Sleep	Metabolic Health	Strong
rs509035	GHSR GHSR Metabolic Syndrome Variant	Intronic variant in the ghrelin receptor gene; the A allele is associated wit...	Appetite & Obesity	Metabolic Health	Strong
rs1571583	GLIS3 GLIS3 Beta Cell Development Variant	Intronic GLIS3 variant in which the rare A allele modestly elevates TSH, refl...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs16989673	PTPN1 1484insG	A guanine duplication in the 3'-UTR of PTPN1 (PTP1B) that increases mRNA stab...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs17696736	NAA25 NAA25 G/A	Intronic tag SNP at the 12q24 locus that captures SH2B3/LNK regulatory variat...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs2144908	HNF4A HNF4A P2 Block rs2144908	Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impa...	Hormones & Sleep	Metabolic Health	Moderate
rs6947337	INHBA	Activin A signaling variant near INHBA linking adipocyte dysfunction to share...	Appetite & Obesity	Metabolic Health	Moderate
rs1884613	HNF4A HNF4A P2 Promoter T2D Variant	Intronic variant tagging the HNF4A P2 promoter risk haplotype; the G allele s...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs193922485	HNF1B	Rare HNF1B splice-region intronic variant of uncertain significance, found ne...	Blood Sugar & Diabetes	Metabolic Health	Emerging
rs2229431	INSR	Synonymous exon 13 variant in the insulin receptor gene; the A allele has bee...	Blood Sugar & Diabetes	Metabolic Health	Emerging
rs2959272	PPARG PPARG intronic calorie-restriction trial variant	Intronic PPARG variant significantly associated with individual variation in ...	Fat Storage & Energy	Metabolic Health	Emerging
rs2237886	KCNQ1 KCNQ1 Potassium Channel Diabetes Variant	Intronic variant in KCNQ1's imprinted region, tagging the same LD block as es...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs358806	WNT5A	Regulatory variant near WNT5A linked to type 2 diabetes risk via impaired Wnt...	Fat Storage & Energy	Metabolic Health	Moderate
rs2268574	GCK c.679+38T>G	Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 referen...	Blood Sugar & Diabetes	Metabolic Health	Emerging
rs9819506	GHSR GHSR Promoter Variant (Ghrelin Receptor Signaling)	Promoter-region tag SNP in the ghrelin receptor gene associated with body wei...	Appetite & Obesity	Metabolic Health	Moderate
rs2466293	SLC30A8 SLC30A8 Islet Zinc Regulation Variant	3'UTR variant in the zinc transporter ZnT8 gene that disrupts miRNA binding s...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs290475	TCF7L2 TCF7L2 Beta Cell Function Depth Variant	Intronic TCF7L2 variant tagging a distinct haplotype with emerging evidence f...	Blood Sugar & Diabetes	Metabolic Health	Emerging
rs3856806	PPARG His477His (C1431T)	Synonymous PPARG variant where the T allele reduces type 2 diabetes risk and ...	Fat Storage & Energy	Metabolic Health	Strong
rs4684847	PPARG PPARG cis-regulatory variant (PR domain recruitment)	Intronic cis-regulatory PPARG variant where the C allele recruits PR domain r...	Fat Storage & Energy	Metabolic Health	Moderate
rs4684854	PPARG	Intergenic regulatory variant downstream of PPARG associated with central obe...	Fat Storage & Energy	Metabolic Health	Emerging
rs4810424	R3HDML R3HDML rs4810424	Intronic variant tagging the HNF4A P2 promoter risk haplotype; C allele carri...	Fat Storage & Energy	Metabolic Health	Moderate
rs3787345	PTPN1 PTPN1 LD Block Co-Variant	Intronic PTPN1 tag SNP within the 100-kb PTP1B insulin-resistance haplotype b...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs3787348	PTPN1 PTPN1 intronic variant	Intronic PTPN1 tag SNP within the 100-kb insulin-resistance haplotype block; ...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs397514580	GCK GCK MODY2 E339K	Pathogenic glucokinase missense variant causing maturity-onset diabetes of th...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs4607517	GCK GCK fasting glucose GWAS variant	Common intronic variant near glucokinase that raises fasting glucose by impai...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs6954668	SFRP5 SFRP5 Wnt5a inhibitor variant	Intergenic variant near the SFRP5 adipokine locus; the A allele is strongly e...	Fat Storage & Energy	Metabolic Health	Emerging
rs4807015	PTPRS PTPRS T2D risk variant	Intronic PTPRS variant that tags elevated type 2 diabetes risk in both sexes ...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs4812829	HNF4A HNF4A Intronic T2D Risk Variant	Common intronic variant in HNF4A associated with modestly elevated type 2 dia...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs709158	PPARG	Intronic PPARG variant in strong linkage disequilibrium with rs1175543; the G...	Fat Storage & Energy	Metabolic Health	Emerging
rs492594	G6PC2 Val219Leu	Coding variant in the islet glucose-6-phosphatase that fine-tunes the fasting...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs822391	ADIPOQ IVS1+407C>T	Intronic variant in the adiponectin gene associated with circulating adiponec...	Fat Storage & Energy	Metabolic Health	Moderate
rs6020611	PTPN1	Intronic PTPN1 tag SNP in the PTP1B regulatory LD block; the minor A allele i...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs743572	CYP17A1 -34 T>C	Promoter variant affecting 17α-hydroxylase expression and steroid hormone syn...	Hormones & Sleep	Metabolic Health	Strong
rs6031551	HNF4A HNF4A Regulatory Variant	Intronic variant 80 bp from rs6031552 within the HNF4A P2 promoter haplotype ...	Blood Sugar & Diabetes	Metabolic Health	Emerging
rs6031552	HNF4A HNF4A Regulatory Variant	Intronic variant tagging the HNF4A P2 promoter haplotype; carriers have modes...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs6067484	PTPN1 PTPN1 rs6067484	Intronic PTPN1 tag SNP within the 100-kb T2D-risk haplotype block — carriers ...	Blood Sugar & Diabetes	Metabolic Health	Moderate
rs7850258	PTCSC2	Intronic variant in the PTCSC2 lncRNA that alters a FOXE1 enhancer element, m...	Hormones & Sleep	Metabolic Health	Strong
rs7202877	CTRB1	Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expressio...	Blood Sugar & Diabetes	Metabolic Health	Strong
rs965513	FOXE1	Strongest GWAS thyroid locus — regulatory variant near FOXE1 affecting thyroi...	Hormones & Sleep	Metabolic Health	Strong