How to collect SNP dataset from databases for SNP analysis?

Question: How to collect SNP dataset from databases for SNP analysis?

20 days ago by

arr234 • 0

arr234 • 0 wrote:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5449402/ - In this study, it is mentioned that human APOE gene has 183 validated SNPs out of which 31 are missense, 21 are synonymous, 2 are nonsense, 98 are intronic, 7 are 5′ UTR, 6 are 3′ UTR, 7 are downstream, 8 are upstream, 1 is splice donor and 2 are splice acceptor variants. This data is collected using dbSNP. I would like to know how to collect these validated SNP dataset from dbSNP.

databases snp • 159 views

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modified 11 days ago by Pierre Lindenbaum ♦ 116k • written 20 days ago by arr234 • 0

ExSNP database (http://www.exsnp.org/DZeQTL)

ADD REPLY • link written 20 days ago by maryamtavasoli71 • 0

11 days ago by

Kevin Blighe ♦ 35k

Republic of Ireland

Kevin Blighe ♦ 35k wrote:

The link provided by maryamtavasoli71 relates to eQTL studies, which is not what you want.

If you are not comfortable using the command line and in working with the dbSNP data locally, then you can just use the Ensembl Genome Browser to look up all variants in a particular gene. HERE is a search configured for APOE:

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Click on the Excel® sheet icon (at right) in order to download the data as CSV:

The data contains scores from in silico predictors, like SIFT, PolyPhen, MutationAssessor, CADD, etc. I did my own quick filtering and more or less identified ~200 'damaging' variants in the gene.

Kevin

ADD COMMENT • link modified 11 days ago • written 11 days ago by Kevin Blighe ♦ 35k

11 days ago by

Pierre Lindenbaum ♦ 116k

France/Nantes/Institut du Thorax - INSERM UMR1087

Pierre Lindenbaum ♦ 116k wrote:

using mysq ucsc

$ mysql --user=genome --host=genome-mysql.soe.ucsc.edu -A -P 3306 -D hg38 -e 'select func,valid,count(*) from snp142 where chrom="chr19" and chromStart>=44905749 and chromEnd<=44909395 group by func,valid'
+----------------------------+--------------------------------------------------------+----------+
| func                       | valid                                                  | count(*) |
+----------------------------+--------------------------------------------------------+----------+
| coding-synon               | unknown                                                |       13 |
| coding-synon               | by-frequency                                           |        1 |
| coding-synon               | by-1000genomes                                         |        3 |
| coding-synon               | by-cluster,by-1000genomes                              |        2 |
| coding-synon               | by-frequency,by-1000genomes                            |        2 |
| intron                     | unknown                                                |       25 |
| intron                     | by-cluster                                             |        4 |
| intron                     | by-1000genomes                                         |       33 |
| intron                     | by-cluster,by-1000genomes                              |        3 |
| intron                     | by-frequency,by-1000genomes                            |       24 |
| intron                     | by-cluster,by-frequency,by-1000genomes                 |       11 |
| near-gene-5                | by-cluster,by-frequency,by-1000genomes                 |        1 |
| nonsense                   | unknown                                                |        2 |
| missense                   | unknown                                                |       28 |
| missense                   | by-cluster                                             |        8 |
| missense                   | by-1000genomes                                         |       11 |
| missense                   | by-frequency,by-1000genomes                            |        7 |
| missense                   | by-cluster,by-frequency,by-1000genomes                 |        1 |
| missense                   | by-cluster,by-frequency,by-2hit-2allele,by-1000genomes |        2 |
| missense                   | by-frequency,by-hapmap,by-1000genomes                  |        1 |
| intron,missense            | by-1000genomes                                         |        1 |
| intron,missense            | by-frequency,by-1000genomes                            |        1 |
| intron,missense            | by-cluster,by-frequency,by-hapmap,by-1000genomes       |        1 |
| frameshift                 | unknown                                                |        1 |
| cds-indel                  | unknown                                                |        2 |
| untranslated-3             | unknown                                                |        2 |
| untranslated-3             | by-1000genomes                                         |        1 |
| untranslated-3             | by-frequency,by-1000genomes                            |        3 |
| untranslated-5             | by-1000genomes                                         |        3 |
| intron,untranslated-5      | by-1000genomes                                         |        1 |
| intron,untranslated-5      | by-frequency,by-1000genomes                            |        1 |
| near-gene-5,untranslated-5 | by-1000genomes                                         |        1 |
| splice-3                   | unknown                                                |        1 |
| splice-3                   | by-cluster                                             |        1 |
| splice-5                   | by-cluster                                             |        1 |
+----------------------------+--------------------------------------------------------+----------+

ADD COMMENT • link written 11 days ago by Pierre Lindenbaum ♦ 116k

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