rs4790333 chr17:2359409 C>T

Color scale

color scale ref
-log10 FDR of Ref (C) ASB
color scale alt
-log10 FDR of Alt (T) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
GLIS1_HUMAN n/a 2.36 1.006.5·10-3 2.00 n/a No Hit
GCR_HUMAN 0.94 0.73 0.021.00 1.03 n/a No Hit
EPAS1_HUMAN -0.46 1.31 1.000.04 1.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

EMBL-EBI proinsulin levels
GRASP 32,33-split proinsulin in non-diabetics,  advanced age-related macular degeneration (choroidal neovascularization) vs. no amd,  fasting insulin,  fasting insulin in non-diabetics,  fasting proinsulin levels in non-diabetics,  hdl cholesterol,  homa-ir,  homa-ir in non-diabetics,  insulin processing and secretion,  mitral annular calcium,  salmonella-induced pyroptosis,  systolic blood pressure (sbp),  total cholesterol
PheWAS abnormal findings on mammogram or breast exam,  abnormal function study of cardiovascular system,  acquired deformities of ankle and foot,  acquired hemolytic anemias,  adjustment reaction,  adverse effects of adrenal cortical steroids,  agorophobia, social phobia, and panic disorder,  anomalies of tooth position/malocclusion,  aphakia and other disorders of lens,  av block,  bladder cancer,  bladder cancer and neoplasms,  bronchopneumonia and lung abscess,  cancer of bone & connective tissue,  cancer of connective tissue,  cancer of kidney and urinary organs,  cellulitis and abscess of hand/fingers,  chronic ischemic heart disease,  chronic liver disease and cirrhosis,  chronic nonalcoholic liver disease,  conduct disorders,  congenital anomalies of limbs,  congenital cataract and lens anomalies,  contact dermatitis and other eczema due to plants [except food],  decreased libido,  dentofacial anomalies, including malocclusion,  dermatomyositis and polymyositis,  diplopia and disorders of binocular vision,  disorders of liver,  disturbance of salivary secretion,  diverticulum of esophagus, acquired,  dysmenorrhea,  encounter for long-term use of antiplatelets/antithrombotics,  endometriosis,  epistaxis or throat hemorrhage,  esophageal atresia/tracheoesophageal fistula,  excessive or frequent menstruation,  fracture of hand or wrist,  glomerulonephritis,  hodgkins disease,  hypotension nos,  ill-defined descriptions and complications of heart disease,  infections involving bone,  inflammatory spondylopathies,  intracranial hemorrhage,  kidney replaced by transpant,  liver abscess and sequelae of chronic liver disease,  lump or mass in breast,  malignant neoplasm of kidney and other urinary organs,  mechanical complication due to other implant and internal device,  mechanical complication of nervous system device, implant, and graft,  mechanical complications of cardiac/vascular device, implant, and graft,  neoplasm of unspecified nature of digestive system,  nephritis & nephropathy,  non-melanoma skin cancer,  obsessive-compulsive disorder,  obstructive sleep apnea,  osteoarthrosis,  osteoarthrosis nos,  osteomyelitis,  other disorders of gallbladder,  other unspecified back disorders,  paralytic strabismus,  pelvic peritoneal adhesions, female (postoperative) (postinfection),  pernicious anemia,  poisoning by hormones and synthetic substitutes,  poisoning by water, mineral, and uric acid metabolism drugs,  pseudoexfoliation glaucoma,  psoriasis & related disorders,  secondary malignancy of lung,  sexual and gender identity disorders,  skin cancer,  sleep apnea,  suppurative and unspecified otitis media,  symptoms involving head and neck,  unspecified osteomyelitis,  upper gastrointestinal congenital anomalies
GTEx eQTL Artery_Tibial,  Brain_Putamen_basal_ganglia,  Esophagus_Mucosa,  Esophagus_Muscularis,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Testis,  Thyroid

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