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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