rs17035378 chr2:68371823 T>C

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CDK9_HUMAN -0.88 2.28 1.001.9·10-4 1.00 n/a n/a
EP300_HUMAN 2.70 -2.57 4.2·10-31.00 1.00 n/a n/a
RUNX3_HUMAN 2.67 -2.54 5.4·10-31.00 1.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

EMBL-EBI celiac disease
GRASP celiac disease,  multiple sclerosis,  selective immunoglobulin a deficiency (igad)
PheWAS acquired deformities of limbs,  acquired hypothyroidism,  acquired toe deformities,  acute pharyngitis,  acute upper respiratory infections,  adverse effects of adrenal cortical steroids,  altered mental status,  anemia in chronic kidney disease,  anisometropia,  aseptic necrosis of bone,  behcets syndrome,  bronchitis,  bursitis,  candidiasis,  chronic pharyngitis and nasopharyngitis,  colles fracture,  complication of amputation stump,  cyst and pseudocyst of pancreas,  cystoid macular degeneration of retina,  decreased white blood cell count,  decubitus ulcer,  diseases of the oral soft tissues,  disorders of binocular eye movements,  disorders of lacrimal system,  disturbances of amino-acid transport,  disturbances of sulphur-bearing amino-acid metabolism,  ectropion or entropion,  encounter for long-term use of aspirin,  exostosis of jaw,  fracture of ankle and foot,  fracture of foot,  hypersomnia,  impacted cerumen,  incisional hernia,  inflammation of eyelids,  inflammation of the eye,  injuries to the nervous system,  internal derangement of knee,  keratitis,  malignant neoplasm, other,  migraine,  neutropenia,  nevus, non-neoplastic,  obstructive sleep apnea,  other conditions of brain, nos,  other disorders of bone and cartilage,  other disorders of eyelids,  other peripheral nerve disorders,  other specified osteoporosis,  pain in limb,  parasomnia,  peripheral retinal degenerations,  pituitary hypofunction,  pneumonitis due to inhalation of food or vomitus,  poisoning by hormones and synthetic substitutes,  prostate cancer,  psychogenic and somatoform disorders,  reflux esophagitis,  retinal detachments and defects,  retinal disorders,  retinal vascular changes and abnomalities,  sialoadenitis,  sleep apnea,  sleep disorders,  somatoform disorder,  strabismus (not specified as paralytic),  testicular dysfunction,  testicular hypofunction,  type 1 diabetes,  type 1 diabetes nephropathy,  type 2 diabetic ketoacidosis,  ventral hernia
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Tibial,  Breast_Mammary_Tissue,  Skin_Not_Sun_Exposed_Suprapubic,  Spleen,  Whole_Blood

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