The Minor "A" allele is associated with:

  • While promoter activity was higher with the disease-associated A allele, there was a decrease in signal in the DNA-protein complex seen on EMSA. One possibility is that the unknown protein binding to the SNP may be a transcriptional repressor (i.e. less binding, higher transcription). Another is that the minor allele leads to an increase in transcription in neuroblastoma cells, but a decrease in the developing brain.


Parent Gene: NRG1

Importance: 3
Less common allele: A = 8%
More common allele: G = 92%
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