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rs712039 chr17:37490447 C>T

Sequence
caagtgtccaacttgagtctttct[C/T]tgcggtggtagatgggtgtgcgcg
ASB in cell types
GM12878 (female B-cells)

Color scale

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

Details

Cell type
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
GM12878 (female B-cells) 0.64 0.39 9.8·10-40.63 1.32
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Motif analysis

No data available

Genetic associations

EMBL-EBI tuberculosis
GRASP birth weight blood pressure response to candesartan treatment eye color hypertension (early onset hypertension) late onset alzheimers disease tuberculosis
PheWAS abnormal findings on mammogram or breast exam abnormal involuntary movements abnormal results of function studies abnormal thyroid function adverse drug events and drug allergies adverse effects of antineoplastic and immunosuppressive drugs adverse effects of opiates and related narcotics in therapeutic use adverse effects of sedatives or other central nervous system depressants and anesthetics age-related macular degeneration arthropathy nos atherosclerosis of aorta bacterial enteritis bacterial pneumonia cerebral aneurysm cervical cancer cholelithiasis with other cholecystitis chronic obstructive asthma cns infection and poliomyelitis cyst or abscess of bartholins gland ectropion or entropion edema epilepsy essential tremor fracture of upper limb ileostomy status inflammation of eyelids inflammation of the eye inflammatory conditions of jaw intestinal infection due to c. difficile jaw disease nos joint/ligament sprain keratitis malignant neoplasm of ovary mechanical complication due to other implant and internal device mental disorders due to brain damage migraine miscarriage stillbirth non-melanoma skin cancer nontoxic uninodular goiter open wound of nose and sinus oral aphthae osteitis deformans and osteopathies associated with other disorders other disorders of back other disorders of eyelids other disorders of intestine other specified nonpsychotic and/or transient mental disorders other specified peripheral vascular diseases otitis media paralytic ileus paroxysmal tachycardia, unspecified paroxysmal ventricular tachycardia partial epilepsy personal history of allergy to medicinal agents poisoning by primarily systemic agents ptosis of eyelid retinal detachments and defects retinal vascular changes and abnomalities secondary malignant neoplasm of digestive systems severe protein-calorie malnutrition shock strabismus (not specified as paralytic) subarachnoid hemorrhage type 1 diabetic ketoacidosis ulcer of esophagus ulceration of the lower gi tract urethral stricture (not specified as infectious) vascular insufficiency of intestine
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Adrenal_Gland Artery_Aorta Artery_Tibial Breast_Mammary_Tissue Cells_Cultured_fibroblasts Cells_EBV-transformed_lymphocytes Colon_Sigmoid Colon_Transverse Esophagus_Gastroesophageal_Junction Esophagus_Mucosa Esophagus_Muscularis Heart_Atrial_Appendage Heart_Left_Ventricle Lung Muscle_Skeletal Nerve_Tibial Ovary Pancreas Pituitary Prostate Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Stomach Thyroid Whole_Blood

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