Tag
Pancreatic Beta Cell
35 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 | |
| rs10278336 | YKT6 GCK-Region Intronic Variant | Intronic variant in YKT6 immediately downstream of GCK; the A allele is a GWA... | Blood Sugar & Diabetes | Moderate | |
| rs10515237 | PCSK1 PCSK1 A/G (rs10515237) | Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype, red... | Appetite & Obesity | Moderate | |
| rs104894007 | GCK Thr228Met (MODY2) | Pathogenic glucokinase missense variant that nearly abolishes enzyme activity... | Blood Sugar & Diabetes | Established | |
| rs11037909 | EXT2 | Intronic EXT2 variant associated with a modest increase in type 2 diabetes su... | Appetite & Obesity | Moderate | |
| rs11052552 | CLECL1 | Intronic variant in CLECL1, a dendritic-cell costimulatory C-type lectin, ass... | Appetite & Obesity | Moderate | |
| rs10811661 | CDKN2B | Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al... | Blood Sugar & Diabetes | Strong | |
| rs10885122 | ADRA2A ADRA2A Beta-Cell cAMP Variant | Intergenic variant near ADRA2A that modulates alpha-2A adrenergic receptor ex... | Blood Sugar & Diabetes | Moderate | |
| rs1111875 | HHEX HHEX/IDE locus T2D risk variant | Primary tag SNP at the HHEX/IDE locus on chromosome 10q23, one of the earlies... | Blood Sugar & Diabetes | Established | |
| rs1143699 | PTPRS PTPRS C/T (rs1143699) | Synonymous PTPRS variant associated with increased type 2 diabetes risk in me... | Blood Sugar & Diabetes | Moderate | |
| rs563694 | ABCB11 G6PC2/ABCB11 fasting glucose locus | Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula... | Liver Fat | Strong | |
| rs184660829 | DENND2C | Rare intronic variant near a DENND2C splice site associated with an 8-fold in... | Appetite & Obesity | Moderate | |
| rs1169288 | HNF1A HNF1A Ile27Leu | Common coding variant in the HNF1A transcription factor dimerization domain t... | Blood Sugar & Diabetes | Strong | |
| rs193922339 | GCK | Likely-pathogenic GCK missense variant (p.Phe316Tyr) causing glucokinase loss... | Metabolic Enzymes & Rare Disorders | Strong | |
| rs13429458 | THADA THADA PCOS/T2D Variant | Intronic variant in THADA, a gene encoding a calcium channel-regulating prote... | Blood Sugar & Diabetes | Moderate | |
| rs1495377 | TSPAN8 | Intronic variant in TSPAN8 (Tetraspanin 8) associated with reduced insulin se... | Blood Sugar & Diabetes | Strong | |
| rs1884614 | HNF4A HNF4A P2 Promoter rs1884614 | Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele i... | Hormones & Sleep | Moderate | |
| rs1537373 | CDKN2B-AS1 ANRIL T2D/Cardiovascular Variant | Regulatory intronic variant within ANRIL (CDKN2B-AS1) at the 9p21.3 locus; th... | Blood Sugar & Diabetes | Strong | |
| rs6232 | PCSK1 PCSK1 N221D (Asn221Asp) | Missense variant in PCSK1 encoding an Asn221Asp substitution near the Ca-1 ca... | Appetite & Obesity | Strong | |
| rs6234 | PCSK1 PCSK1 Q665E (Gln665Glu) | Missense variant in PCSK1 that causes a Gln665Glu substitution in the C-termi... | Appetite & Obesity | Strong | |
| rs2144908 | HNF4A HNF4A P2 Block rs2144908 | Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impa... | Hormones & Sleep | Moderate | |
| rs6235 | PCSK1 PCSK1 S690T (Ser690Thr) | Missense variant encoding the Ser690Thr substitution in the C-terminal domain... | Appetite & Obesity | Strong | |
| rs1801278 | IRS1 Gly972Arg (G972R) | Missense variant in insulin receptor substrate 1 that impairs tyrosine phosph... | Blood Sugar & Diabetes | Strong | |
| rs1884613 | HNF4A HNF4A P2 Promoter T2D Variant | Intronic variant tagging the HNF4A P2 promoter risk haplotype; the G allele s... | Blood Sugar & Diabetes | Moderate | |
| rs193929374 | GCK GCK Ala378Val (MODY2) | Pathogenic missense variant in glucokinase that raises the glucose set-point ... | Blood Sugar & Diabetes | Established | |
| rs2268574 | GCK c.679+38T>G | Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 referen... | Blood Sugar & Diabetes | Emerging | |
| rs4810424 | R3HDML R3HDML rs4810424 | Intronic variant tagging the HNF4A P2 promoter risk haplotype; C allele carri... | Fat Storage & Energy | Moderate | |
| rs391300 | SRR SRR rs391300 | Intronic variant in serine racemase that alters D-serine production in pancre... | Blood Sugar & Diabetes | Moderate | |
| rs4607517 | GCK GCK fasting glucose GWAS variant | Common intronic variant near glucokinase that raises fasting glucose by impai... | 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 | |
| rs492594 | G6PC2 Val219Leu | Coding variant in the islet glucose-6-phosphatase that fine-tunes the fasting... | Blood Sugar & Diabetes | Moderate | |
| rs5015480 | HHEX HHEX/IDE locus variant | Regulatory variant near HHEX and IDE linked to impaired beta-cell development... | Blood Sugar & Diabetes | Established | |
| rs5210 | KCNJ11 KCNJ11 Kir6.2 Co-Variant | A regulatory 3' UTR variant in KCNJ11 that modulates KATP channel expression ... | Blood Sugar & Diabetes | Moderate | |
| rs564398 | CDKN2B-AS1 | Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS... | Blood Sugar & Diabetes | Moderate | |
| rs7202877 | CTRB1 | Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expressio... | Blood Sugar & Diabetes | Strong |