Table 3. Allele definitions define the class of the variation in dbSNP.

dbSNP variation classa, bRules for assigning allele classesSample allele definitionClass code in Sybase, ASN.1, and XMLc
Single Nucleotide Variations (SNVs)aStrictly defined as single base substitutions involving A, T, C, or G.

Formerly called “SNP”. Name changed to “SNV” to emphasize that the dbSNP database contains both rare and polymorphic variants.
A/T1
Deletion/Insertion Variations (DIVs)aDesignated using the full sequence of the insertion as one allele, and either a fully defined string for the variant allele or a “-” character to specify the deleted allele. This class will be assigned to a variation if the variation alleles are of different lengths or if one of the alleles is deleted (“-”).

Formerly called “DIP”. Name changed to “DIV” to emphasize that the dbSNP database contains both rare and polymorphic variants.
T/-/CCTA/G2
Heterozygous sequenceaThe term heterozygous is used to specify a region detected by certain methods that do not resolve the polymorphism into a specific sequence motif. In these cases, a unique flanking sequence must be provided to define a sequence context for the variation.(heterozygous)3
Microsatellite or short tandem repeat (STR)aAlleles are designated by providing the repeat motif and the copy number for each allele. Expansion of the allele repeat motif designated in dbSNP into full-length sequence will be only an approximation of the true genomic sequence because many microsatellite markers are not fully sequenced and are resolved as size variants only.(CAC)8/9/10/114
Named variantaApplies to insertion/deletion polymorphisms of longer sequence features, such as retroposon dimorphism for Alu or line elements. These variations frequently include a deletion “-” indicator for the absent allele.(alu) / -5
No-variationaReports may be submitted for segments of sequence that are assayed and determined to be invariant in the sample.(NoVariation)6
MixedbMix of other classes7
Multi-Nucleotide Variation (MNV)aAssigned to variations that are multi-base variations of a single, common length.

Formerly called “MNP”. Name changed to “MNV” to emphasize that the dbSNP database contains both rare and polymorphic variants.

GGA/AGT8

Seven of the classes apply to both submissions of variations (submitted SNP assay, or ss#) and the non-redundant refSNP clusters (rs#'s) created in dbSNP.

The “Mixed” class is assigned to refSNP clusters that group submissions from different variation classes.

Class codes have a numeric representation in the database itself and in the export versions of the data (ASN.1 and XML).

From: Chapter 5, The Single Nucleotide Polymorphism Database (dbSNP) of Nucleotide Sequence Variation

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