FAVOR - (Functional Annotation of Variants Online Resource)

About FAVORannotator Forums Team Terms Newsletter

What's Newv2025.1

About FAVORannotator Forums Team Terms Newsletter

What's Newv2025.1

© 2026 Harvard T.H Chan School of Public Health, Inc. All rights reserved.

BRCA1

gene with protein product

BRCA1, DNA repair associated

Start position: 43044294End position: 43125363

Gene Level Annotation SNV Summary InDel Summary Single Cell/Tissue Full Tables Genome Browser

Allele Distribution Genecode Comprehensive Category Clinvar Clinical Significance Functional Consequences

Annotation

Count

% of Total

Total:

Count

2233

% of Total

1.0000

Total:

2233

1.0000

Common (MAF > 0.01):

Count

182

% of Total

0.0815

Common (MAF > 0.01):

182

0.0815

Low Frequency (0.0001 <= MAF < 0.01):

Count

472

% of Total

0.2114

Low Frequency (0.0001 <= MAF < 0.01):

472

0.2114

Rare (MAF < 0.0001):

Count

1579

% of Total

0.7071

Rare (MAF < 0.0001):

1579

0.7071

Singletons:

Count

452

% of Total

0.2024

Singletons:

452

0.2024

Doubletons:

Count

280

% of Total

0.1254

Doubletons:

280

0.1254