GET-Evidence

Discovered this when searching on rs111033171 which is responsible for Familial Dysautonomia -- it isn't already in GET-Evidence, but should be added as a disease-causing (or disease-associated) variant. When I search on it, I get sent to: http://evidence.personalgenomes.org/- (which produces an error)

(It's in an intron and so isn't predicted to affect amino acid sequence, but is believed to affect splicing.)

I am marking this as high priority (should be done in the next month) because we'd like to have this fixed for the final version of the paper: analysis of PGP6 genome (after we upgrade to using build 37) should reveal this variant.