FOXI1 Chromosome 5
Forkhead box I1
Upload your DNA to see your personal genotypes for variants in FOXI1.
What This Gene Does
This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
5q35.1
Ensembl
ENSG00000168269
Associated Conditions (3)
Autosomal recessive nonsyndromic hearing loss 4
FOXI1-related disorder
Hearing impairment
Key Variants
RS114293092
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS115399307
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS137901435
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS141924917
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS145785746
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS147596900
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS149203108
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS151161274
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS201090454
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS35678180
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS370450076
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS373094576
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114293092 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4 |
| RS115399307 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4 |
| RS137901435 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4 |
| RS141924917 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4 |
| RS145785746 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS147596900 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS149203108 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4 |
| RS151161274 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS201090454 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS35678180 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4 |
| RS370450076 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4 |
| RS373094576 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4 |
| RS377539902 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS553561553 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder, Autosomal recessive nonsyndromic hearing loss 4 |
| RS56128152 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS768858662 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS777573595 | Health Risk | Likely pathogenic | Hearing impairment, Hearing impairment |