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Variant

Variant

The lancet

Description

A genetic Variant is a difference in the DNA sequence of an individual's genome compared to the reference or normal DNA sequence. 

Node Properties

  • Allele_ID - A unique integer identifier, the Allele ID,  is assigned to each individual variant in ClinVar

  • Chromosome - Chromosome where variant is located

  • Mate_Version - The SPOKE Cloud Version that node was introduced

  • alternative_allele - Any base, other than the reference, that is found at that locus

  • Allele frequencies in specific populations format: [Ref Allele Frequency, Alt Allele]

  • frequency_African - African

  • frequency_African_American - African American

  • frequency_African_Others - African Others

  • frequency_Asian - Asian

  • frequency_East_Asian - East Asian

  • frequency_European - European

  • frequency_Latin_American_1 - Latin American 1

  • frequency_Latin_American_2 - Latin American 2

  • frequency_Other - Other

  • frequency_Other_Asian - Other Asian

  • frequency_South_Asian - South Asian

  • frequency_Total - Total

identifier - RefSNP (rs) identifier

position - The anchor position for this RefSNP

reference_allele - The most common allele

source - dbSNP

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