Gene entry
EYS
EGF-like photoreceptor maintenance factor
- Chromosome
- 6
- Cytoband
- 6q12
- Variants (rsID)
- 299
EYS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q12). Its official name is “EGF-like photoreceptor maintenance factor”. The reference table lists 299 variants (rsID) for this gene.
Clinically classified variants
15 reference-table entries with clinical significance.
- rs16895519Benignsingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 25
- rs17411795Benignsingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 25
- rs57312007Benignsingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 25
- rs61754905Benignsingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 25
- rs624851Benignsingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 25
- rs75634595Benignsingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 25
- rs75831552Benignsingle nucleotide variantRetinitis pigmentosa 25|Retinitis pigmentosa
- rs9342464Benignsingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 25
- rs9353806Benignsingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 25
- rs111947397Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 25
- rs199689193Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 25
- rs370140172Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 25
- rs559078881Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa
- rs372354156Pathogenicsingle nucleotide variantRetinitis pigmentosa
- rs12207746Not classifiedmissense_variant
Other listed variants
- rs168514
- rs321509
- rs321511
- rs354364
- rs354401
- rs354402
- rs452975
- rs697305
- rs923536
- rs958706
- rs1041522
- rs1145943
- rs1306746
- rs1331202
- rs1390267
- rs1393685
- rs1482450
- rs1482463
- rs1502962
- rs1873289
- rs1873292
- rs1873294
- rs1929723
- rs1929724
- rs2055173
- rs2144714
- rs2146755
- rs2146757
- rs2171902
- rs2183675
- rs2350001
- rs2350284
- rs2882373
- rs2993115
- rs3003684
- rs4580839
- rs4710283
- rs4710286
- rs4710520
- rs4710525
- rs5008811
- rs6455017
- rs6899354
- rs6903774
- rs6906159
- rs6913283
- rs6923575
- rs6925610
- rs6927405
- rs6928743
- rs6929878
- rs6931063
- rs6934646
- rs6937429
- rs7738129
- rs7750139
- rs7751369
- rs7752934
- rs7753751
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.