Fig. 1

The image contains multiple tracks from YDHS database: starting from the outer rim with Gene Ontology (GO), Gene, SNP and finally the innermost track is OrphaNet. In the Gene Ontology track biological process is viewed in red, molecular function in black, and cellular component in green. The height of the GO bar corresponds to the amount of ontologies linked to the gene. In the Gene track the positive strand is colored black and the negative one in red. The third track counting from the outer rim is the SNP track where different types of SNPs have different color schema. From up to down: T- > G is in light blue, T- > C is in blue, T- > A is in dark blue; G- > T is in light grey, G- > is in grey, G- > A is in black; C- > T is in light green, C- > G is in green, C- > A is in dark green; A- > G is in pink, A- > C is in red, A- > T is in dark red. In the innermost track, OrphaNet and OMIM, the higher the bar is the more diseases has been reported for that gene or region. The grey plot on top of the SNP track indicates the frequency of SNPs in that region. There are some clearly visible 'hotspots' where a lot of mutations have clustered