LDH Content and Access - Data Consumers

LDH Data Entities

Currently, LDH includes variant centric data from these sources:

Type Entity Source
Subject Genes HGNC
Variants ClinGen Allele Registry (CAR)
Linked Data Allele molecular consequences Ensembl VEP v96.0
In-silico predictors CADD, REVEL and M-CAP from MyVariant.info, S-CAP
Population allele frequencies gnomAD v2.1.1
Variant submissions ClinVar
Community annotations ClinGen community annotations in hypothes.is
Allele functional impacts Functional Data Repository (FDRepo)
CIViC evidence CIViC

Data Access

A core feature of LDH is dissemination through RESTful-APIs so several tools and users can benefit from making use of the information linked in LDH. Online API Docs are coming soon.