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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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rs10305420
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GLP1R
Pro7Leu
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GLP-1 receptor signal peptide variant that enhances semaglutide and tirzepati...
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Pharmacogenomics
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Moderate
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rs11854484
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SLC28A2
SLC28A2 Pro22Leu
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Missense variant in the concentrative nucleoside transporter 2 (CNT2) gene th...
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Vitamins & Nutrient Absorption
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Moderate
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rs1042044
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GLP1R
Leu260Phe
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GLP-1 receptor variant in intracellular loop 2 that alters receptor surface e...
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Pharmacogenomics
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Moderate
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rs1805123
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KCNH2
K897T
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Common KCNH2 missense variant that alters hERG potassium channel kinetics, sh...
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Arrhythmia & Heart Rhythm
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Strong
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rs11206244
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DIO1
C785T
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Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metab...
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Hormones & Sleep
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Strong
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rs1152003
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PPARG
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PPARG 3'-flanking region variant — the G allele independently tags a PPARG re...
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Fat Storage & Energy
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Emerging
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rs397508068
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KCNQ1
Phe340del
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Pathogenic in-frame 3-bp deletion in the KCNQ1 potassium channel that removes...
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Arrhythmia & Heart Rhythm
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Established
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rs1800544
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ADRA2A
ADRA2A Promoter -1291C>G
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Promoter variant that alters alpha-2A adrenergic receptor expression, affecti...
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Appetite & Obesity
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Moderate
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rs17002852
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CYP2D6
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Synonymous CYP2D6 variant that causes allele dropout in standard CYP2D6*3 gen...
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Pharmacogenomics
|
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Moderate
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rs1801252
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ADRB1
Ser49Gly
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Beta-1 adrenergic receptor variant at position 49 affecting receptor downregu...
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Fitness & Body
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Strong
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rs1801253
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ADRB1
Arg389Gly
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Beta-1 adrenergic receptor variant where Arg389 produces higher basal activit...
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Fitness & Body
|
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Strong
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rs396991
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FCGR3A
V158F
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Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig...
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Innate Immunity & Infection Defense
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Strong
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rs8087522
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MC4R
MC4R A/G (rs8087522)
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Upstream regulatory variant near MC4R that may create a transcription factor ...
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Appetite & Obesity
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Emerging
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rs63749869
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RYR1
R4861H (Arg4861His)
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RYR1 missense variant causing malignant hyperthermia susceptibility and centr...
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Fitness & Body
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Established
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rs28371759
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CYP3A4
*18 (L293R)
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Rare missense variant causing a Leu293Arg substitution in CYP3A4, associated ...
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Pharmacogenomics
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Moderate
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rs3765467
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GLP1R
Arg131Gln
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Missense variant in the GLP-1 receptor that alters drug response to GLP-1 ago...
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Pharmacogenomics
|
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Moderate
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rs3814637
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CYP2C19
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Upstream CYP2C19 variant associated with altered R-warfarin clearance and inc...
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Pharmacogenomics
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Moderate
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rs58194899
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EIPR1
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Intronic variant in EIPR1 (endosomal trafficking protein) associated with pai...
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Pharmacogenomics
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Emerging
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rs6923761
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GLP1R
Gly168Ser
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GLP-1 receptor variant that alters response to GLP-1 agonist medications used...
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Pharmacogenomics
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Moderate
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