Variant Search via rsIDs

Currently, PIC-SURE does not support the rsIDs or other variant IDs. However, users can still search for variants based off rsIDs by following the directions outlined below.

1. Search for the rsID and obtain the variant information (highlighted in the yellow box) from the dbSNP database. Note: Only the variant position on “GRCh38” should be considered.

Using dbSNP database to search for an rsID position

1. Enter the variant information into the Query Builder search bar in the following format:

• “chromosome”,“position”,“reference allele”,“variant allele”

• Chromosomes must be in the form of “chr1”, “chr2”, …

• Example: chr17,35269878,G,A

Paste the variant information from dbSNP into the PIC-SURE Query Builder

1. Choose whether you want to select patients whose genotype for the variant is “homozygous” or “heterozygous” or any. And then click “Run.”

Select type of variant - homozygous, heterozygous, or all