RESULT OF MUTATION

Total records: 1 Records

 

Record No:1


ACCESS NO300128
GENE_NAMEORMDL3
dbSNP_IDrs8076131
CHANGESA/C/G
ANCESTRAL_ALLELESA
FUNCTIONAL_CONSEQUENCESIntron Variant
DISEASEAllergic Asthma
POPULATIONChinese population
PMID 26483175
COMMENTSThe 17q12-21 locus has a strong genetic association with Allergic Asthma but not with Allergic Rhinitis. The polymorphic effect of this locus is attributed to the linkage set tagged by rs8076131, which affects the expression of ORMDL3, PPP1R1B, ZPBP2 and GSDMB and is correlated with high IgE levels and eosinophil counts in subjects bearing the risk genotype.



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