Gene entry
PDE6A
phosphodiesterase 6A
- Chromosome
- 5
- Cytoband
- 5q32
- Variants (rsID)
- 49
PDE6A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q32). Its official name is “phosphodiesterase 6A”. The reference table lists 49 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs30884Benignsingle nucleotide variantRetinitis pigmentosa
- rs4705390Benignsingle nucleotide variantRetinitis pigmentosa
- rs61732059Benignsingle nucleotide variantRetinitis pigmentosa 43|Retinitis pigmentosa
- rs61733363Benignsingle nucleotide variantRetinitis pigmentosa
- rs75319698Benignsingle nucleotide variantRetinitis pigmentosa
- rs888895Benignsingle nucleotide variantRetinitis pigmentosa
- rs114973968Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa
- rs139444207Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 43
- rs141252097Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Retinal dystrophy|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 43
- rs147047715Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa
- rs148598583Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa
- rs17711594Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa
- rs78775072Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa 43|Retinitis pigmentosa
- rs148938083Uncertain significancesingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 43
Other listed variants
- rs30827
- rs245071
- rs245073
- rs245083
- rs2544934
- rs3733666
- rs6878747
- rs9885044
- rs10040644
- rs10044175
- rs10053292
- rs10515636
- rs35431421
- rs60254740
- rs72830272
- rs72830297
- rs73267797
- rs74771814
- rs75921978
- rs76082232
- rs76103262
- rs76734221
- rs76866013
- rs77187626
- rs77695589
- rs112142220
- rs112771183
- rs116949378
- rs138949704
- rs145718445
- rs146145709
- rs191969446
- rs199925117
- rs200518176
- rs200540105
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.