rs11479 chr22:50525807 G>A

Sequence
ggcagaacgagctctgcgaagggc[G/A]agggggcggcgaatggcgcgcggt
ASB in cell types
MS-1 (Small cell lung carcinoma) CD4+ T-cells gastrocnemius medialis
ASB for transcription factors
INT11_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
INT11_HUMAN -0.58 1.98 0.980.02 3.00 n/a n/a
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Motif analysis

No data available

Genetic associations

ClinVar mitochondrial dna depletion syndrome 1 (mngie type)
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Nucleus_accumbens_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Liver,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Testis,  Thyroid,  Vagina,  Whole_Blood

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