Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79074
Gene Symbol: C2orf49
C2orf49
0.010 GeneticVariation disease BEFREE Two novel FLG LOF singletons, c.488delG and p.S3101*, were discovered as well as p.R501*, p.R826* and rs149484917" genes_norm="2312">p.S3316* previously reported for AD. rs149484917" genes_norm="2312">p.S3316* (rs149484917) is likely an African ancestral FLG LOF, reported in African individuals in ExAC (Exome Aggregation Consortium), Exome Variant Server (ESP), and 4 African 1000G population databases (ESN, MSL, ASW, and ACB). 29791750 2018