Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia

Based on dbSNP and ClinVar it appears that this SNP is triallelic, with G as ancestral and both A and T reported as variants in dbSNP and ClinVar. While G>A is noted as pathogenic in ClinVar, the exemplar sequence in dbSNP is G>T and hence that is what the geno fields in rsnum are based on, until further evidence that T is in error.