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.