How to get gene name for SNPs RS ids
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4.5 years ago
valerie ▴ 100

Hi!

I want to obtain a table of correspondence of all the existing SNP RS ids to the genes they are located in (if they are located in genes). I've tried to use for that biomart, but the download is extremely slow, even though the other files are downloaded quickly. I also found a table in UCSC table browser, but there I can get RefSeq names only, and as the file is large, the translation again takes a lot of time. Is there a simle way to get this kind of table?

Thanks!

gene sequencing • 3.2k views
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use mysql , see How To Map A Snp To A Gene Around +/- 60Kb ? (note; the mysql query has changed : mysql --user=genome --host=genome-mysql.soe.ucsc.edu -A -P 3306 )

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4.5 years ago
GenoMax 142k

Use EntrezDirect:

$ esearch -db snp -query "rs555895" | esummary | xtract -pattern GENE_E -element NAME
PTEN
PTEN

If you need additional information.

$ esearch -db snp -query "rs555895" | esummary | xtract -pattern DocumentSummary -element SNP_ID,NAME,CHRPOS,DOCSUM
555895  PTEN    10:87961150     HGVS=NC_000010.11:g.87961150T>G,NC_000010.10:g.89720907T>G,NG_007466.2:g.102712T>G,NW_013171807.1:g.176939T>G|SEQ=[T/G]|GENE=PTEN:5728
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4.5 years ago
Emily 23k

Run them through the Ensembl VEP. You'll get the genes plus a bunch of other information about how the variants affect the genes.

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4.5 years ago

Yet another answer, via biomaRt, in R: A: How to retrieve Gene name from SNP ID using biomaRt

Kevin

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