| Ensembl ID |
Gene symbol |
Open Targets Genetics |
Clinvar |
Gene Burden |
Genomics england panel |
Gene2Phenotype |
UniProt literature |
Uniprot variants |
Clingen |
Orphanet |
| Disease/phenotype |
Publication |
Variant ID |
P-value |
L2G score |
Sample size |
| Disease/phenotype |
Variant ID (RSID) |
rsID |
HGVS ID |
ClinVar ID |
Clinical significance |
Review status |
| Disease/phenotype |
Study ID |
Ancestry |
P-value |
Sample size |
| Disease/phenotype |
Allelic Requirement |
Genomics England Panel |
Confidence category |
Literature |
| g2p/phenotype |
Functional consequence |
Allelic requirement |
Panel |
Confidence |
Literature |
| Disease/phenotype |
Reported protein |
Confidence |
Literature |
| Disease/phenotype |
Reported protein |
Variant |
Confidence |
Literature |
| Disease/phenotype |
Study |
Allelic requirement |
Classification |
| Disease/phenotype |
Reported protein |
Allele origin |
Confidence |
Literature |