Research
Tag

Metabolic Health

42 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
rs1044498 ENPP1 K121Q ENPP1 K121Q variant that increases ENPP1 binding affinity to the insulin rece... Blood Sugar & Diabetes Strong
rs11061946 ADIPOR2 Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed ... Fat Storage & Energy Emerging
rs116862713 PRKAB1 Rare AMPK beta-1 subunit variant linking central energy sensing to shared mig... Fat Storage & Energy Emerging
rs104894011 GCK Glu265Lys (MODY2) Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting ... Blood Sugar & Diabetes Established
rs1175544 PPARG PPARG rs1175544 Intronic PPARG variant that accounts for ~7% of individual variation in body ... Fat Storage & Energy Emerging
rs12490265 PPARG PPARG Intronic Haplotype Variant Intronic PPARG variant in a metabolic syndrome–associated haplotype block; th... Fat Storage & Energy Emerging
rs10885406 TCF7L2 TCF7L2 Wnt Signaling Depth Variant Intronic TCF7L2 variant tagging the diabetes-risk haplotype and associated wi... Blood Sugar & Diabetes Moderate
rs16861194 ADIPOQ -11426A>G Upstream promoter variant that reduces ADIPOQ transcription, lowering circula... Fat Storage & Energy Moderate
rs16861205 ADIPOQ Intronic ADIPOQ variant in LD with the promoter region; the minor A allele is... Fat Storage & Energy Moderate
rs2229616 MC4R V103I Missense variant in MC4R converting valine to isoleucine at position 103; the... Appetite & Obesity Strong
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
rs16928751 ADIPOR2 ADIPOR2 CVD co-association variant Synonymous coding variant in ADIPOR2 (Q265Q) that was co-associated with card... Fat Storage & Energy Emerging
rs11708067 ADCY5 ADCY5 Glucose Signaling Variant Intronic regulatory variant that reduces ADCY5 expression in pancreatic islet... Blood Sugar & Diabetes Strong
rs2361502 MROH2A Intronic variant adjacent to the UGT1A gene cluster; C allele tags elevated s... Metabolic Enzymes & Rare Disorders Moderate
rs1884614 HNF4A HNF4A P2 Promoter rs1884614 Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele i... Hormones & Sleep Moderate
rs2016105 ELK3 ELK3 TSH regulatory variant Intronic regulatory variant in ELK3 influencing circulating TSH levels and hy... Hormones & Sleep Strong
rs2959272 PPARG PPARG intronic calorie-restriction trial variant Intronic PPARG variant significantly associated with individual variation in ... Fat Storage & Energy Emerging
rs1571583 GLIS3 GLIS3 Beta Cell Development Variant Intronic GLIS3 variant in which the rare A allele modestly elevates TSH, refl... Blood Sugar & Diabetes Strong
rs4784165 TOX3 TOX3 rs4784165 Intronic PCOS susceptibility variant near TOX3; the G allele is associated wi... Fertility & Ovarian Function Moderate
rs17696736 NAA25 NAA25 G/A Intronic tag SNP at the 12q24 locus, increasing risk for type 1 diabetes, juv... Blood Sugar & Diabetes Strong
rs2144908 HNF4A HNF4A P2 Block rs2144908 Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impa... Hormones & Sleep Moderate
rs3856806 PPARG His477His (C1431T) Synonymous PPARG variant where the T allele reduces type 2 diabetes risk and ... Fat Storage & Energy Strong
rs822391 ADIPOQ IVS1+407C>T Intronic variant in the adiponectin gene associated with ischemic stroke risk... Fat Storage & Energy Moderate
rs2229431 INSR Synonymous exon 13 variant in the insulin receptor gene; the A allele has bee... Blood Sugar & Diabetes Emerging
rs2268574 GCK c.679+38T>G Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 referen... Blood Sugar & Diabetes Emerging
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
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 variant near glucokinase that raises fasting glucose by impairing the ... Blood Sugar & Diabetes Strong
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
rs743572 CYP17A1 -34 T>C Promoter variant affecting 17α-hydroxylase expression and steroid hormone syn... Hormones & Sleep Strong
rs7850258 PTCSC2 Intronic variant in the PTCSC2 lncRNA that alters a FOXE1 enhancer element, m... Hormones & Sleep Strong
rs965513 FOXE1 Strongest GWAS thyroid locus — regulatory variant near FOXE1 affecting thyroi... Hormones & Sleep Strong
rs6020611 PTPN1 Intronic PTPN1 tag SNP in the PTP1B regulatory LD block; the minor A allele i... Blood Sugar & Diabetes Moderate
rs6067484 PTPN1 PTPN1 rs6067484 Intronic PTPN1 tag SNP raising LDL cholesterol risk in lean individuals Blood Sugar & Diabetes Moderate
rs7202877 CTRB1 Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expressio... Blood Sugar & Diabetes Strong