RESULT OF MUTATION
Total records: 1 Records
 
Record No:1
ACCESS NO | 301037 |
GENE_NAME | GATA3 |
dbSNP_ID | rs422628 |
CHANGES | C/T |
ANCESTRAL_ALLELES | T |
FUNCTIONAL_CONSEQUENCES | Intron Variant |
DISEASE | Asthma |
POPULATION | UK population |
PMID | 25250096 |
COMMENTS | cg17124583 modified the association of SNP rs422628 with asthma risk at the age of 18 years. Subjects with genotype AG showed an increase in average risk ratio from 0.31 to 11.65 when methylation level increased from 0.02 to 0.12, relative to genotype AA. |