Hello, Anelia,
The whole area of genotype-phenotype associations is fraught with
technical and ethical difficulties, especially when it comes to
attempting to diagnose or treat disease. At the Genome Browser, we
are not experts in this area and would not attempt to make predictions
about individual nucleotides.
Having said that, the OMIM project (omim.org) does have a curated set
of alleles that we present as a track in the Browser. It is known as
the OMIM AV SNPs (AV= Allelic Variant) track and is found in the second
blue-bar track group beneath the main Browser graphic (Phenotype and
Disease Associations). The data in this track are rather sparse and
should be used with extreme caution. It is important to read the entire
record at omim.org (follow the link on the details page after clicking
an item) carefully before reaching any conclusions.
You may also be interested to know about the Variant Effect Predictor at
Ensembl, which makes molecular (not medical!) predictions about the
affect a variant SNP would have on a protein.
best wishes in your work and thanks for using the UCSC Genome Browser.
--b0b kuhn
ucsc genome bioinformatics group
On 1/20/2012 2:09 PM, Horvath, Anelia (NIH/NICHD) [E] wrote:
> How can I access data on the phenotype of the individuals with a certain rare
> SNP, or at least get the info if they have been considered healthy controls?
>
> Also, is it possible to download the genome/exome data from an individual
> with a certain SNP?
>
> Thank you so much in advance,
>
> Kind regards,
>
> Anelia
>
>
> ******************************************
> Anelia Horvath, PhD
> NIH/NICHD, PDEGEN
> 10 Center Dr, CRC, Rm 1E-3216
> Bethesda, MD 20892
> Tel: +1 (301) 402 1998
> Fax:+1(301) 402 0574
> ******************************************
>
> _______________________________________________
> Genome maillist - [email protected]
> https://lists.soe.ucsc.edu/mailman/listinfo/genome
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