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Variation Reporter

Version 1.2
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Upload your variants and get a report of known variants and functional consequences

We are sorry but a service supporting the Variation Reporter service is down. We expect this is a transient problem but if this persists, please use the Write to Us link to report the problem.
Genome Information
Please select the assembly that you are using for your variant analysis.
If you select the wrong assembly you could get unanticipated results and errors.
Chromosome coordinates submitted on NCBI36(hg18) are first remapped to GRCh37(hg19) then matched to current dbSNP rs numbers for which current attributes are reported. NCBI36(hg18)/GRCh37(hg19) selection is ignored for HGVS format since the HGVS expression has the specific sequence accession and version. Please note if a submitted NCBI36 (hg18) position does not have reciprocal 1:1 mapping to GRCh37 (hg19) it will be dropped from the report; in our next release of the software we will make sure all submitted locations are included in the report. You can try to use the NCBI Remap service to find a suitable GRCh37 location for your variant.
Data
context specific help: input format
You can paste multiple lines into the text area.
You can specify the format your file is in, or you can just let us guess.
Problems
Disclaimer: Assertions about the phenotypic effects of variants are provided by multiple sources, have different levels of experimental support, and may conflict. NCBI does not independently verify assertions and cannot endorse their accuracy. Information obtained through this resource is not a substitute for professional genetic counseling and is not intended for use as the basis of medical decision making.
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