PhenCode Advanced Queries

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Advanced query form

Data sources

Locus-Specific Databases
Locus-Specific database name
UniProt (Swiss-Prot/TrEMBL)

Variant type and location

Variant types
substitution
deletion
insertion
duplication
complex

Variant locations
exon
intron
5' UTR
3' UTR
not within known transcription unit

Genomic position

Human genome assembly

Estimated coordinates
variants whose coordinates are estimated

Attributes

Phenotype any phenotype data or
Phenotype association
Name or alias for variant
Any attribute with value
Attribute type with a value of

Links

Variants with an OMIM allele link
Variants with links to OMIM accession
Variants with a dbSNP link
Variants with links to dbSNP rs#
Variants with links to the source LSDB