Variant lookup

This form allows you to quickly access the ReMM score of a variant (SNV or InDel).

Please note how the ReMM score is retrieved for different types of variants:

  • SNV: the score of the position is retrieved.
  • Multi nucleotide variant (MNV): the maximum score over all positions is used.
  • Insertions: the maximum score of the preceding and subsequent nucleotide is retrieved.
  • Deletions: the maximum score of the deleted nucleotied positions is retrieved.
  • For InDels you have to use the preceding nucleotide, similar specified in the VCF format.
Please also note that we do not check for the correctness of the alleles at the positions.

Chromosome: Position:
Reference Allele: Alternative Allele:
Assembly: Version: