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Variation Reporter

Help | FAQ

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

This is a pre-release version of the Variation Reporter. A minimal set of features has been implemented. If you find any errors or wish to request a feature, please Write to Us and let us know the problem or request.
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.
Annotation on NCBI36 is based on SNP build130, so some newer data will not be available. You can remap your data into GRCh37 coordinates using NCBI Remap.
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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