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

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POU5F1B

gene with protein product

POU class 5 homeobox 1B

Start position: 127415824End position: 127417209

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

21

% of Total

1.0000

Total:

21

1.0000

Common (MAF > 0.01):

Count

1

% of Total

0.0476

Common (MAF > 0.01):

1

0.0476

Low Frequency (0.0001 <= MAF < 0.01):

Count

3

% of Total

0.1429

Low Frequency (0.0001 <= MAF < 0.01):

3

0.1429

Rare (MAF < 0.0001):

Count

17

% of Total

0.8095

Rare (MAF < 0.0001):

17

0.8095

Singletons:

Count

5

% of Total

0.2381

Singletons:

5

0.2381

Doubletons:

Count

5

% of Total

0.2381

Doubletons:

5

0.2381