- Before downloading the comment file, the safe as PDF gave an completely empty file.
Ah, that makes sense. We only added the pdf file option recently I think, at the same time the "remarks" database was added. We still need to repackage the latest versions of the files so everything that goes together gets downloaded together
- The sorting by first collumn works on the PDF file , but not on the TXT file.
With the text file, the best approach is to open it from Excel. Then each field will be in a sortable column.
And now ? Learn how to lookup .... and not panic when I find a scary one
You can look them up by rsID (rs11558538, etc) at
www.ncbi.nlm.nih.gov/projects/SNP/ . That will often link to any pathogenic info, or you can directly look up a gene at OMIM.org.
There are usually multiple different positions given for missense mutations, as more info about the protein created is uncovered, so positions given in the report can be wrong. But the amino acid abbreviations are always the same. So the report might say the mutation is "T105I" but it's reported elsewhere as "T71I". So on OMIM and similar, it can be important to look for nearby numbers with the same amino acids.
So for HNMT T105I, there's no link to pathogenic info about it, though you can see links to all the research if you hover over the cyan box in the map view. But at OMIM that SNP is listed at
http://omim.org/entry/605238#0001 and the research is summarized. Some says its a risk factor for asthma, some says it isn't. So it's not pathogenic, and might or might not mean asthma is more likely.
Your NPHS2 mutation is more interesting.
http://www.omim.org/entry/604766#0006 shows that it's pathogenic when autosomal recessive (homozygous or compound heterozygous) but also indicates that people heterozygous for this mutation can have a milder form of Nephrotic Syndrome which is sometimes responsive to steroids. Though as it says in the summary on OMIM, it can't be ruled out that there's another heterozygous mutation on the same gene which causes them to be compound heterozygous. 0.4% of the general population is heterozygous for that mutation, so it's quite rare.