[ensembl-dev] Question regarding rs#'s - location only vs. location + nucleotide

[Ullman-Cullere, Mollie]

The rs# is a location identifier, where theoretically one rs# may have multiple variants A/T, A/C, A/G.  To muddy the waters further, you may have A/T somatic, A/T germline etc...

I've been testing VEP GRCh 37 (online version) and found the rs# is returned on a matching of location and not location + nucleotide change.
Would you please confirm functionality for both the online and standalone tools?

Best regards,
Mollie

Mollie Ullman-Cullere
Sr. Clinical Bioinformaticist
Clinical and Translational Informatics
Dana-Farber Cancer Institute/Partners Healthcare




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