rs2439312 chr8:32554841 A>G

Sequence
ttctcttcattcttcctatgcccc[A/G]tgtcacctttttctggcctccaga
ASB in cell types
erythroid progenitors
ASB for transcription factors
MEF2B_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) ASB
color scale alt
-log10 FDR of Alt (G) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
MEF2B_HUMAN 2.28 -2.07 9.2·10-51.00 1.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

EMBL-EBI dialysis-related mortality
GRASP all-cause death (mortality) on dialysis in patients with type 2 diabetes irritible bowel syndrome refractive error
PheWAS abnormal findings on exam of gastrointestinal tract/abdominal area acne acute and chronic tonsillitis acute prostatitis acute tonsillitis amblyopia ankylosis of joint antisocial/borderline personality disorder ascvd bronchitis bullous dermatoses cervical radiculitis chronic venous insufficiency circulatory disease nec conduct disorders congenital anomalies of urinary system cystic kidney disease disorders of lipoid metabolism dysthymic disorder elevated prostate specific antigen fracture of hand or wrist fracture of pelvis functional disorders of bladder gastrointestinal complications genitourinary congenital anomalies giant cell arteritis hallucinations hemoptysis hyperlipidemia intestinal infection macular degeneration, dry mental retardation migraine neutropenia nevus, non-neoplastic nontoxic uninodular goiter orthostatic hypotension osteoarthrosis localized, primary other disorders of intestine other forms of chronic heart disease other hemoglobinopathies parasomnia pelvic inflammatory disease plasma protein metabolism disorder primary angle-closure glaucoma prostate cancer retinal drusen seborheic dermatitis second degree av block stomach cancer subdural hemorrhage subdural hemorrhage (injury) symptoms of the muscles toxic multinodular goiter type 1 diabetic retinopathy unspecified monoarthritis uterine cancer varicose veins varicose veins of lower extremity varicose veins of lower extremity, symptomtic vascular disorders of penis
GTEx eQTL Adipose_Visceral_Omentum Liver Lung Thyroid Whole_Blood

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