Genome Explorer FAQ

What is ClinVar?

Clinical Variant Repository (ClinVar) is an archive of reports at the National Institutes of Health that serves as a public resource. Researchers and laboratorians who study and identify genetic variation and its association to conditions submit data to the archive. ClinVar then aggregates the information about genomic variation and its relationship to human health, reports on the association of genetic variation to conditions, and calculates the consensus for that association.

What is an RCV ID?

A Reference ClinVar Variant Accession Identifier (RCV ID) is assigned by the National Institutes of Health to the aggregate data for any association of a genetic variation to a particular condition.

What is the MT chromosome?

The mitochondria (MT) is considered the “powerhouse” of the cell, providing much of the energy a cell needs to function. Your mitochondria has its own genome, different from the DNA in the other twenty-three chromosome pairs contained in the nucleus of your cells. Since it has its own genome, the mitochondria can also have mutations that will lead to disease.

What is an SNP?

A Single Nucleotide Polymorphism (SNP)—pronounced “snip”—is the most common type of variant in the human genome. It is a single nucleotide change in a DNA sequence.

What is an rsID?

A Reference dbSNP Cluster Identifier (rsID) is a unique number assigned by the National Institutes of Health for variants at a specific position in the genome. 

How do I interpret the “Impact” column?

A SNP, or variant (also known as a mutation), usually causes a change in protein product. We use a specific notation to explain the protein change that is occurring. For example, if the notation “Arg289Tyr” were to appear in your Impact column, that would mean that an arginine at position 289 in the protein sequence has been changed into a tyrosine.

The Impact notation is a part of Human Genome Variation Society (HGVS) nomenclature. HGVS exists to foster discovery and characterization of genomic variations. It maintains a collection of links to mutation databases and makes recommendations for the nomenclature of variations and the content of mutation databases.

What is Risk Frequency?

The Risk Frequency is how common a variant is in the human genome. It is based on genomic studies on large populations.

Why is the “Risk Frequency” column blank for a particular variant in my genome?

The frequency of that variant in the population may not have been determined yet. Research is ever expanding, and as more research is carried out, we can expect the frequency of more and more variants to be determined.

What do “D” and “I” mean in the Ref and Alt columns?

Some SNPs, or variants, can result when of a section of DNA is replaced by other DNA. This situation can be represented as a simultaneous Deletion (D) of DNA and Insertion (I) of DNA. For example, if your genome were to include a variant where the Ref is “A” and the Alt is “AGTC,” then your Ref column would have a “D,” and your Alt column an “I,” indicating that you have one Ref allele and one Alt allele.

Why is there a Question Mark (?) symbol in my “Your Data” column? What does that mean?

The Question Mark (?) means that your data at that position on your genome is missing (not known). It is possible that section of your genome was not covered by your genetic test, or it may have been covered but the quality was too poor for us to accurately determine your data.

What does “Risk Version” mean?

The “Risk Version” column shows you the allele that relates to the condition listed. For example, the reference genome may have a “G” at position 12345, but the alternate allele could be a “T.” If that change from G to T has been clinically evaluated in relation to a condition, we will refer to that “T” allele as the “Risk Version” of that base pair.

Do I have all of the conditions listed in the table?

No, you do not necessarily have all the conditions listed. Genome Explorer shows you all variants for which there is clinically relevant data (based on information in ClinVar) that connects them to various conditions.

Look to the “Your Status” and “Classification” columns to understand how your data relates to the condition listed. Or you can use a filter, such as “Possible Health Impact,” to narrow down your search to just the variants and conditions that you might have.

The links in the “Reference” column take me to many publications. Do I need to read through all this information?

No, you do not need to read through all the information. We provide the links so you can read more detail about relevant research if you wish.

The “Links” column takes me to different databases. Do I need to read through all this information to understand my data?

No, you do not need to read through all the information. We provide the links so you can access more relevant information in greater detail if you wish to dive deeper.