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rs7148292 chr14:50336122 A>G

Sequence
agcaacaatgtctggatgaggcca[A/G]ctggttgcctgtgatacgctggag
ASB in cell types
BE2C MRC-5 (fetal lung fibroblasts)
ASB for transcription factors
HAND2_HUMAN NGN2_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
HAND2_HUMAN -4.29 2.67 1.004.2·10-4 1.50 n/a n/a
NGN2_HUMAN 0.31 1.20 0.935.0·10-3 1.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP advanced age-related macular degeneration (choroidal neovascularization) vs. no amd homa-b microalbuminuria
GTEx eQTL Adipose_Visceral_Omentum Artery_Aorta Brain_Anterior_cingulate_cortex_BA24 Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Brain_Frontal_Cortex_BA9 Brain_Hippocampus Cells_Cultured_fibroblasts Cells_EBV-transformed_lymphocytes Colon_Sigmoid Colon_Transverse Esophagus_Gastroesophageal_Junction Esophagus_Muscularis Heart_Atrial_Appendage Heart_Left_Ventricle Muscle_Skeletal Nerve_Tibial Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Stomach Testis Thyroid Whole_Blood

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