rs1000597 chr7:30897563 T>C

Sequence
ttaataattatatcaggacagttt[T/C]gtaatcaggaactgccgtgcacgg
ASB in cell types
CD34+ hematopoietic stem cells-derived proerythroblasts
ASB for transcription factors
GATA1_HUMAN

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
GATA1_HUMAN 1.81 0.02 0.021.00 1.83 -0.05 Weak Concordant
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Motif analysis

GATA1_HUMAN Weak Concordant
GATA1_HUMAN pic

Genetic associations

EMBL-EBI nephrolithiasis
GRASP asthma,  autism,  kidney stones (nephrolithiasis)

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