Variation Reporter statistics

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Citations per year

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Popular tool citations

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Tool usage distribution map

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Associated diseases

Associated diseases

Variation Reporter specifications

Information


Unique identifier OMICS_03770
Name Variation Reporter
Interface Web user interface
Restrictions to use None
Input data Variation Reporter accepts input data in the form of variant definitions to query our databases.
Output data The report we generate includes molecular consequences, 1000Genome minor allele frequencies (MAF), clinical significance and citations. For novel variants (those not in our archive), we compute molecular consequences based on RefSeq transcripts.
Computer skills Basic
Stability Stable
Maintained Yes

Variation Reporter in publications

 (3)
PMCID: 5501658
PMID: 28640805
DOI: 10.1371/journal.pcbi.1005628

[…] were reported as non-pathogenic, thus exhibiting a likely protective or compensatory effect on the carrier subjects. the remaining 699 variants were retrieved from ncbi dbsnp 144 through the ncbi variation reporter tool (http://www.ncbi.nlm.nih.gov/variation/tools/reporter). variants with no reported pathological consequences in dbsnp and no overlap with mitomap were considered harmless. […]

PMCID: 4477006
PMID: 26061870
DOI: 10.1186/s40169-015-0060-7

[…] for predicting mutations affecting protein function, but additional tools to increase the prediction accuracy for rare polymorphisms were considered important. provean (http://provean.jcvi.org/) and variation reporter (http://www.ncbi.nlm.nih.gov/variation/tools/reporter) from ncbis clinvar toolkit were added to increase the prediction capabilities of ydhs. these tools used in sync can provide […]

PMCID: 4028079
PMID: 24628925
DOI: 10.1186/1471-2164-15-199

[…] web server []., further, for the gwa dataset, 19,532 single nucleotide polymorphisms (snps) with p value <0.0001 [] were selected. these snps were mapped to their corresponding genes using ncbi variation reporter, scan (snp and cnv annotation) database [] and spot web tool []. this led us to the identification of 1,686 genes which were ranked based on weighted p value obtained though […]


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