I generally use NCBI SNP database, You may find your desired information. http://www.ncbi.nlm.nih.gov/snp
Try this database too http://www.hgmd.cf.ac.uk/ac/index.php . However The latter is not my like
Hi Babak
Thanks for your reply, dbSNP is my like too, in dbSNP you can download all SNPs via ftp in bed format with functional information included. But that is based on SNPs , their effect and their position. what I want is to consider functional anotation of genes which have these kind of SNPs, anyway thanks for your consideration.
FATHMM has this facility.
http://supfam2.cs.bris.ac.uk/FATHMM/
Paste in your SNPs then select from range of available ontologies including GO but also disease and phenotype ontologies.
Shihab, H.A., Gough, J., Cooper, D.N., Barker, G.L.A., Edwards, K.J., Day, I.N.M., Gaunt, T. (2012) Predicting the consequences of amino acid substitutions: A Functional Analysis Through Hidden Markov Models (FATHMM). Human mutation 34(1), 57-65.
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