ESRRB Chromosome 14
Estrogen related receptor beta
Upload your DNA to see your personal genotypes for variants in ESRRB.
What This Gene Does
This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Estrogen related receptors
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119715
Associated Conditions (3)
Autosomal recessive nonsyndromic hearing loss 35
ESRRB-related disorder
Rare genetic deafness
Key Variants
RS138510486
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
Health Risk
RS141586518
Conflicting classifications of pathogenicity
Health Risk
RS145982062
Conflicting classifications of pathogenicity
ESRRB-related disorder, ESRRB-related disorder
Health Risk
RS148356050
Conflicting classifications of pathogenicity
Health Risk
RS180967093
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
Health Risk
RS188462546
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
Health Risk
RS200237229
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
Health Risk
RS201344770
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
Health Risk
RS201448899
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
Health Risk
RS201726554
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 35, ESRRB-related disorder, Autosomal recessive nonsyndromic hearing loss 35
Health Risk
RS370162922
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
Health Risk
RS370193367
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138510486 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS141586518 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145982062 | Health Risk | Conflicting classifications of pathogenicity | ESRRB-related disorder, ESRRB-related disorder |
| RS148356050 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS180967093 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS188462546 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS200237229 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS201344770 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS201448899 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS201726554 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, ESRRB-related disorder, Autosomal recessive nonsyndromic hearing loss 35 |
| RS370162922 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS370193367 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS372618689 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS373131497 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, ESRRB-related disorder, Autosomal recessive nonsyndromic hearing loss 35 |
| RS373429794 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS377536301 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS534216019 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS546495818 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61760172 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, ESRRB-related disorder, Autosomal recessive nonsyndromic hearing loss 35 |
| RS765906060 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS781612689 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS79273904 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS876657463 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1261105707 | Health Risk | Likely pathogenic | ESRRB-related disorder, ESRRB-related disorder |
| RS1485778712 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS1555344820 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS202023138 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2503913559 | Health Risk | Likely pathogenic | — |
| RS727503041 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS727504577 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS773887736 | Health Risk | Likely pathogenic | — |
| RS876657643 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1060499794 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS1064439 | Health Risk | Pathogenic | — |
| RS121909110 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS121909111 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS1229308767 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS1555342141 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS375916159 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS2503951525 | Health Risk | Pathogenic/Likely pathogenic | — |