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