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rs1000940
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RABEP1
RABEP1 Metabolic-Immune Regulatory Variant
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Intronic variant in RABEP1 associated with fasting glucose modulation under p...
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Autoimmune Tolerance & T-Cell Regulation
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Emerging
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rs10010131
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WFS1
WFS1 Intron 4 T2D Risk Variant
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Intronic variant in WFS1 (wolframin) on chromosome 4q22, one of the earliest ...
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Blood Sugar & Diabetes
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Strong
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rs10278336
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YKT6
GCK-Region Intronic Variant
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Intronic variant in YKT6 immediately downstream of GCK; the A allele is a GWA...
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Blood Sugar & Diabetes
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Moderate
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rs104894007
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GCK
Thr228Met (MODY2)
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Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...
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Blood Sugar & Diabetes
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Established
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rs10885122
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ADRA2A
ADRA2A Beta-Cell cAMP Variant
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Intergenic variant near ADRA2A that modulates alpha-2A adrenergic receptor ex...
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Blood Sugar & Diabetes
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Moderate
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rs10954640
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ENPP1
ENPP1 3'UTR Variant
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Intergenic variant near ENPP1-associated regulatory loci; T allele is associa...
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Blood Sugar & Diabetes
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Emerging
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rs1111875
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HHEX
HHEX/IDE locus T2D risk variant
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Primary tag SNP at the HHEX/IDE locus on chromosome 10q23, one of the earlies...
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Blood Sugar & Diabetes
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Established
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rs563694
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ABCB11
G6PC2/ABCB11 fasting glucose locus
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Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula...
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Liver Fat
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Strong
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rs1801175
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G6PC1
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Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 caus...
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Metabolic Enzymes & Rare Disorders
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Established
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rs193922339
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GCK
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Likely-pathogenic GCK missense variant (p.Phe316Tyr) causing glucokinase loss...
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Metabolic Enzymes & Rare Disorders
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Strong
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rs17036314
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PPARG
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Intronic PPARG variant — carriers of the C allele have elevated fasting gluco...
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Fat Storage & Energy
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Moderate
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rs1884614
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HNF4A
HNF4A P2 Promoter rs1884614
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Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele i...
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Hormones & Sleep
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Moderate
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rs193929374
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GCK
GCK Ala378Val (MODY2)
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Pathogenic missense variant in glucokinase that raises the glucose set-point ...
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Blood Sugar & Diabetes
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Established
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rs2268574
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GCK
c.679+38T>G
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Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 referen...
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Blood Sugar & Diabetes
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Emerging
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rs4810424
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R3HDML
R3HDML rs4810424
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Intronic variant tagging the HNF4A P2 promoter risk haplotype; C allele carri...
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Fat Storage & Energy
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Moderate
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rs4607517
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GCK
GCK fasting glucose GWAS variant
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Common intronic variant near glucokinase that raises fasting glucose by impai...
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Blood Sugar & Diabetes
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Strong
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rs492594
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G6PC2
Val219Leu
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Coding variant in the islet glucose-6-phosphatase that fine-tunes the fasting...
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Blood Sugar & Diabetes
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Moderate
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rs5015480
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HHEX
HHEX/IDE locus variant
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Regulatory variant near HHEX and IDE linked to impaired beta-cell development...
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Blood Sugar & Diabetes
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Established
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rs5210
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KCNJ11
KCNJ11 Kir6.2 Co-Variant
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A regulatory 3' UTR variant in KCNJ11 that modulates KATP channel expression ...
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Blood Sugar & Diabetes
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Moderate
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rs9402571
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SGK1
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Regulatory variant in SGK1 (serum/glucocorticoid regulated kinase 1) — the mi...
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Blood Sugar & Diabetes
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Moderate
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rs941798
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PTPN1
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Intronic PTPN1 variant tagging a haplotype block associated with reduced insu...
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Blood Sugar & Diabetes
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Moderate
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