SNP associated disease

Question

[DanielC]

Dear All,

Can someone please help me to know how to find if a SNP like "rs780819072" is associated with a disease or not?

Thanks much! DK

[GenoMax]

See links in this thread from earlier today (don't go on the title of the thread linked here, it does have relevant information you asked for) : literature review by a web server

[cpad0112]

try also clinical browser (https://www.ebi.ac.uk/eva/?Clinical%20Browser)

Answer 1

[Kevin Blighe]

dbSNP / ClinVar

A good place to look is dbSNP: https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=780819072 (look for 'Clinical Significance'). For this SNP, it's clinical significance is unknown. If there is a known link to a disease, there will be a link to ClinVar here.

Disease- or gene-specific databases

As this particular variant is in BRCA2, you may also consider the fact that breast cancer susceptibility-, Fanconi anaemia-, or DNA repair-specific databases may exist, such as:

• https://databases.lovd.nl/shared/genes/BRCA2
• https://research.nhgri.nih.gov/bic/
• http://www.umd.be/BRCA2/

To get a list of databases like this, go to LOVD and enter your gene of interest in the search box in order to bring up the list of databases available.

Search engine

Also, just use a good old search engine like Yahoo! or Google with terms like:

• rs780819072 disease
• clinical rs780819072
• rs780819072 disease association
• etc.