Gene entry
ABCA4
ATP binding cassette subfamily A member 4
- Chromosome
- 1
- Cytoband
- 1p22.1
- Variants (rsID)
- 278
ABCA4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p22.1). Its official name is “ATP binding cassette subfamily A member 4”. The reference table lists 278 variants (rsID) for this gene.
Clinically classified variants
158 reference-table entries with clinical significance.
- rs145766145Benignsingle nucleotide variantMacular degeneration|Retinitis Pigmentosa, Recessive|Cone-Rod Dystrophy, Recessive|Stargardt Disease, Recessive|ABCA4-Related Disorders
- rs1800549Benignsingle nucleotide variantCone-Rod Dystrophy, Recessive|Stargardt Disease, Recessive|Retinitis Pigmentosa, Recessive|Macular degeneration|ABCA4-Related Disorders
- rs1800555Benignsingle nucleotide variantMACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO|Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Macular degeneration|Retinitis Pigmentosa, Recessive|ABCA4-Related Disorders
- rs1801574Benignsingle nucleotide variantStargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Macular degeneration|ABCA4-Related Disorders|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Cone-rod dystrophy 3|Age related macular degeneration 2
- rs3945204Benignsingle nucleotide variant
- rs4147843Benignsingle nucleotide variant
- rs61754022Benignsingle nucleotide variant
- rs6657239Benignsingle nucleotide variantRetinitis Pigmentosa, Recessive|Cone-Rod Dystrophy, Recessive|Stargardt Disease, Recessive|Macular degeneration|ABCA4-Related Disorders
- rs6666652Benignsingle nucleotide variantMacular degeneration|Retinitis Pigmentosa, Recessive|Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|ABCA4-Related Disorders
- rs915201Benignsingle nucleotide variant
- rs113106943Conflicting interpretationssingle nucleotide variantRetinitis Pigmentosa, Recessive|Stargardt Disease, Recessive|Macular degeneration|Cone-Rod Dystrophy, Recessive|Severe early-childhood-onset retinal dystrophy|Cone dystrophy|Retinal dystrophy
- rs114518437Conflicting interpretationssingle nucleotide variantCone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Macular degeneration|Stargardt Disease, Recessive|Retinal dystrophy|ABCA4-Related Disorders
- rs121909207Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|ABCA4-Related Disorders|Retinal dystrophy
- rs139050119Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|ABCA4-Related Disorders
- rs140482171Conflicting interpretationssingle nucleotide variantStargardt Disease, Recessive|Retinitis Pigmentosa, Recessive|Cone-Rod Dystrophy, Recessive|Macular degeneration|Severe early-childhood-onset retinal dystrophy|Stargardt disease|Retinal dystrophy|ABCA4-Related Disorders
- rs1762111Conflicting interpretationssingle nucleotide variantABCA4-Related Disorders|Cone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Severe early-childhood-onset retinal dystrophy|Retinal dystrophy|Stargardt disease|Cone-rod dystrophy|Cone-rod dystrophy 3
- rs1800553Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO|ABCA4-Related Disorders|Macular dystrophy|Retinal dystrophy|Inborn genetic diseases|Age related macular degeneration 2|Stargardt disease|Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Retinitis pigmentosa 19|Joubert syndrome 5|Retinitis pigmentosa 19|Cone-rod dystrophy|Retinitis pigmentosa
- rs1801581Conflicting interpretationssingle nucleotide variantMACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO|Severe early-childhood-onset retinal dystrophy|Macular degeneration|Cone-Rod Dystrophy, Recessive|Stargardt Disease, Recessive|Retinitis Pigmentosa, Recessive|Stargardt disease|ABCA4-Related Disorders
- rs201150919Conflicting interpretationssingle nucleotide variantCone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Stargardt Disease, Recessive|Severe early-childhood-onset retinal dystrophy|Macular degeneration|ABCA4-Related Disorders
- rs201602424Conflicting interpretationssingle nucleotide variantCone-Rod Dystrophy, Recessive|Severe early-childhood-onset retinal dystrophy|Stargardt Disease, Recessive|Macular degeneration|Retinitis Pigmentosa, Recessive|ABCA4-Related Disorders
- rs28938473Conflicting interpretationssingle nucleotide variantStargardt disease|Severe early-childhood-onset retinal dystrophy|ABCA4-Related Disorders|Vitreoretinopathy|Retinal dystrophy
- rs368846708Conflicting interpretationssingle nucleotide variantCone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Macular degeneration|Stargardt Disease, Recessive|Severe early-childhood-onset retinal dystrophy|ABCA4-Related Disorders
- rs376624031Conflicting interpretationssingle nucleotide variantMacular degeneration|Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Retinal dystrophy
- rs41292677Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Cone-Rod Dystrophy, Recessive|Stargardt Disease, Recessive|Macular degeneration|Retinitis Pigmentosa, Recessive|Cone dystrophy|ABCA4-Related Disorders|Retinitis pigmentosa|Retinal dystrophy
- rs56357060Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|ABCA4-Related Disorders
- rs570745701Conflicting interpretationssingle nucleotide variantRetinitis Pigmentosa, Recessive|Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Macular degeneration|Retinal dystrophy|ABCA4-Related Disorders
- rs575453437Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs58331765Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinitis Pigmentosa, Recessive|Macular degeneration|Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Stargardt disease|ABCA4-Related Disorders|Retinal dystrophy|Retinitis pigmentosa 19
- rs61748519Conflicting interpretationssingle nucleotide variantStargardt Disease, Recessive|Retinitis Pigmentosa, Recessive|Cone-Rod Dystrophy, Recessive|Macular degeneration|Severe early-childhood-onset retinal dystrophy|ABCA4-Related Disorders
- rs61748521Conflicting interpretationssingle nucleotide variantRetinal dystrophy
- rs61748536Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy|ABCA4-Related Disorders
- rs61748537Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61749410Conflicting interpretationssingle nucleotide variantMacular degeneration|Cone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Stargardt Disease, Recessive|ABCA4-Related Disorders
- rs61749412Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Stargardt disease|Retinal dystrophy|ABCA4-Related Disorders
- rs61749417Conflicting interpretationssingle nucleotide variantMacular degeneration|Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Severe early-childhood-onset retinal dystrophy|Retinal dystrophy|ABCA4-Related Disorders
- rs61749440Conflicting interpretationssingle nucleotide variantRetinitis Pigmentosa, Recessive|Macular degeneration|Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Severe early-childhood-onset retinal dystrophy|ABCA4-Related Disorders|Age related macular degeneration 2
- rs61749454Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61750126Conflicting interpretationssingle nucleotide variantCone-rod dystrophy 3|Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Severe early-childhood-onset retinal dystrophy|Macular degeneration|ABCA4-Related Disorders
- rs61750563Conflicting interpretationssingle nucleotide variantRetinal dystrophy|Severe early-childhood-onset retinal dystrophy
- rs61751392Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinitis pigmentosa|Retinal dystrophy|Macular dystrophy|Stargardt disease|Age related macular degeneration 2
- rs61751396Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|ABCA4-Related Disorders
- rs61752395Conflicting interpretationssingle nucleotide variantStargardt Disease, Recessive|Retinitis Pigmentosa, Recessive|Cone-Rod Dystrophy, Recessive|Macular degeneration|Retinal dystrophy|ABCA4-Related Disorders
- rs61752411Conflicting interpretationssingle nucleotide variantRetinal dystrophy|ABCA4-Related Disorders
- rs61752417Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Age related macular degeneration 2
- rs61752424Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy|ABCA4-Related Disorders
- rs61753019Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy|ABCA4-Related Disorders
- rs61753032Conflicting interpretationssingle nucleotide variant
- rs61754024Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy|ABCA4-Related Disorders
- rs62645942Conflicting interpretationssingle nucleotide variantABCA4-Related Disorders
- rs62646862Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Stargardt disease|ABCA4-Related Disorders
- rs74516571Conflicting interpretationssingle nucleotide variantRetinal dystrophy|ABCA4-Related Disorders
- rs76157638Conflicting interpretationssingle nucleotide variantCone-rod dystrophy 3|Severe early-childhood-onset retinal dystrophy|Abnormal macular morphology|Peripheral neuropathy|Retinal dystrophy|Inborn genetic diseases|Stargardt disease|Retinitis pigmentosa|Cone-rod dystrophy|Age related macular degeneration 2|Age-related macular degeneration|Cone-rod dystrophy 3|Retinitis pigmentosa 19
- rs77293072Conflicting interpretationssingle nucleotide variantCone-Rod Dystrophy, Recessive|Macular degeneration|Stargardt Disease, Recessive|Retinitis Pigmentosa, Recessive|Severe early-childhood-onset retinal dystrophy|ABCA4-Related Disorders
- rs779426136Conflicting interpretationssingle nucleotide variantABCA4-Related Disorders
- rs201160433Likely benignsingle nucleotide variantCone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Macular degeneration|Stargardt Disease, Recessive|ABCA4-Related Disorders
- rs201223321Likely pathogenicsingle nucleotide variantRetinal dystrophy
- rs61749414Likely pathogenicsingle nucleotide variantRetinal dystrophy
- rs61749448Likely pathogenicsingle nucleotide variantRetinal dystrophy
- rs61751394Likely pathogenicsingle nucleotide variant
- rs61753020Likely pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs61753021Likely pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs61753028Likely pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs886039882Likely pathogenicsingle nucleotide variantCone-rod dystrophy 3
- rs886044758Likely pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Retinitis pigmentosa 19
- rs121909205Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs148460146Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy|Retinitis pigmentosa 19
- rs150774447Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Stargardt disease
- rs1800728Pathogenicsingle nucleotide variantCone-rod dystrophy 3|Severe early-childhood-onset retinal dystrophy|Benign concentric annular macular dystrophy|Retinal dystrophy|Macular dystrophy|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Age related macular degeneration 2|Cone-rod dystrophy 3|Stargardt disease|Retinitis pigmentosa|Retinitis pigmentosa 19
- rs1801269Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Retinal dystrophy|Age related macular degeneration 2
- rs200692438Pathogenicsingle nucleotide variantCone-rod dystrophy 3|Severe early-childhood-onset retinal dystrophy|Severe early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs201471607Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Cone-rod dystrophy|Macular dystrophy|Stargardt disease|Retinitis pigmentosa|Retinal dystrophy
- rs201738997Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Abnormality of the eye
- rs201855602Pathogenicsingle nucleotide variantRetinal dystrophy|Stargardt disease
- rs377311148Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs55732384Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Retinitis pigmentosa 19|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61748520Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61748550Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61748556Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Macular dystrophy|Retinal dystrophy
- rs61748558Pathogenicsingle nucleotide variantRetinitis pigmentosa 19|ABCA4-Related Disorders|Cone-rod dystrophy 3|Retinitis pigmentosa 19|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Retinal dystrophy
- rs61749420Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Cone-rod dystrophy 3|Age related macular degeneration 2|Retinal dystrophy
- rs61749423Pathogenicsingle nucleotide variantBenign concentric annular macular dystrophy|Severe early-childhood-onset retinal dystrophy|Leber congenital amaurosis|Retinal dystrophy|Age related macular degeneration 2
- rs61749428Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61749456Pathogenicsingle nucleotide variant
- rs61749457Pathogenicsingle nucleotide variant
- rs61749459Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs61750120Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Stargardt disease|Retinal dystrophy|Age related macular degeneration 2
- rs61750121Pathogenicsingle nucleotide variantRetinal dystrophy
- rs61750130Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO|Mandibulofacial dysostosis with mental deficiency|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Retinitis pigmentosa 19|ABCA4-Related Disorders|Stargardt disease|Retinal dystrophy
- rs61750135Pathogenicsingle nucleotide variantRetinal dystrophy|Severe early-childhood-onset retinal dystrophy
- rs61750137Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61750138Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61750142Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|ABCA4-Related Disorders|Retinal dystrophy|Age related macular degeneration 2
- rs61750145Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Stargardt disease|Retinal dystrophy|Age related macular degeneration 2
- rs61750146Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Cone-rod dystrophy 3|Age related macular degeneration 2|Retinal dystrophy|Retinitis pigmentosa 19
- rs61750147Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs61750152Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Inborn genetic diseases|Stargardt disease|Retinal dystrophy|Age related macular degeneration 2
- rs61750155Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy|Stargardt disease|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 19
- rs61750200Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Retinitis pigmentosa 19|Stargardt disease|Retinal dystrophy
- rs61750202Pathogenicsingle nucleotide variantStargardt disease|Retinal dystrophy|Severe early-childhood-onset retinal dystrophy
- rs61750560Pathogenicsingle nucleotide variant
- rs61750562Pathogenicsingle nucleotide variant
- rs61750564Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs61750566PathogenicDeletionSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61750571Pathogenicsingle nucleotide variantStargardt disease|Retinal dystrophy|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa
- rs61750639Pathogenicsingle nucleotide variantRetinitis pigmentosa|Retinal dystrophy
- rs61750641Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Cone-rod dystrophy 3|Age related macular degeneration 2|Vitreoretinopathy|Macular dystrophy|Progressive cone dystrophy (without rod involvement)|Retinal dystrophy|Age related macular degeneration 2
- rs61750643Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61750645Pathogenicsingle nucleotide variantRetinal dystrophy
- rs61750648Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61750654Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Visual loss|Blindness|Macular degeneration|Retinal dystrophy
- rs61750658Pathogenicsingle nucleotide variantStargardt disease
- rs61751374Pathogenicsingle nucleotide variantCone-rod dystrophy 3|Severe early-childhood-onset retinal dystrophy|Retinal dystrophy|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Retinitis pigmentosa 19|Stargardt disease|Retinitis pigmentosa|Macular dystrophy|ABCA4-Related Disorders|Age related macular degeneration 2
- rs61751377Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|maculopathy|Retinal dystrophy|Age related macular degeneration 2
- rs61751383Pathogenicsingle nucleotide variantRetinal dystrophy, early-onset severe|Retinal dystrophy|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Cone-rod dystrophy 3|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Stargardt disease|Retinitis pigmentosa 19
- rs61751384Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61751389PathogenicDeletionSevere early-childhood-onset retinal dystrophy|Retinal dystrophy|Age related macular degeneration 2|maculopathy|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 19|Cone-rod dystrophy
- rs61751397Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs61751399Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinitis pigmentosa|Retinal dystrophy
- rs61751402Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy|ABCA4-Related Disorders|Macular dystrophy|Retinitis pigmentosa 19|Abnormal retinal morphology
- rs61751403Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy|Stargardt disease
- rs61751404Pathogenicsingle nucleotide variantRetinal dystrophy|Severe early-childhood-onset retinal dystrophy|Leber congenital amaurosis|Stargardt disease
- rs61751405Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61751407Pathogenicsingle nucleotide variantRetinitis pigmentosa 19|Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Stargardt disease|Cone-rod dystrophy|Stargardt disease|ABCA4-Related Disorders|Retinal dystrophy|Age related macular degeneration 2
- rs61751408Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Retinitis pigmentosa 19|Stargardt disease|Retinal dystrophy|Age related macular degeneration 2
- rs61751410Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs61752391Pathogenicsingle nucleotide variantRetinal dystrophy
- rs61752401Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Age related macular degeneration 2|Abnormal retinal morphology
- rs61752406Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61752416Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs61752423Pathogenicsingle nucleotide variantRetinal dystrophy
- rs61752425Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs61752435Pathogenicsingle nucleotide variantRetinal dystrophy
- rs61753033Pathogenicsingle nucleotide variantStargardt disease|Cone-rod dystrophy 3|Severe early-childhood-onset retinal dystrophy
- rs61753037Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs61753038Pathogenicsingle nucleotide variantStargardt disease|Retinal dystrophy|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Cone-rod dystrophy 3|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy
- rs61753043Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs61753045Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs61753046Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Cone dystrophy|Retinitis pigmentosa 19
- rs61754044Pathogenicsingle nucleotide variantInborn genetic diseases|Retinal dystrophy
- rs62642562Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs62642573Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy
- rs62642574Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|maculopathy|Retinal dystrophy|Cone-rod dystrophy 3|Retinitis pigmentosa 19|Age-related macular degeneration
- rs62645944Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Cone-rod dystrophy 3|Age related macular degeneration 2|Macular dystrophy|Retinitis pigmentosa|Retinal dystrophy
- rs62645948PathogenicDuplicationSevere early-childhood-onset retinal dystrophy
- rs62645957Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs62646861Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy|Cone-rod dystrophy 3
- rs62654395Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs62654397Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|ABCA4-Related Disorders|Retinal dystrophy
- rs749526785PathogenicDeletionCone-rod dystrophy 3|Retinitis pigmentosa|Retinitis pigmentosa 19|Retinal dystrophy|Age related macular degeneration 2
- rs756840095Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy|Age related macular degeneration 2
- rs759672616Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Retinal dystrophy
- rs760549861Pathogenicsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Stargardt disease|Retinal dystrophy
- rs794726979Pathogenicsingle nucleotide variantRetinal dystrophy
- rs886044735PathogenicDeletionSevere early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3
- rs138359497Uncertain significancesingle nucleotide variantRetinitis pigmentosa 19|Cone-rod dystrophy 3|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy
- rs2297669Uncertain significancesingle nucleotide variant
- rs55896821Not classifiedsingle nucleotide variant
- rs61752390Not classifiedsingle nucleotide variant
Other listed variants
- rs497511
- rs554931
- rs557026
- rs560426
- rs563429
- rs567370
- rs945067
- rs1191236
- rs1209515
- rs1889548
- rs1931575
- rs1932015
- rs2151847
- rs2151848
- rs2184339
- rs2275033
- rs2282229
- rs2297632
- rs2297635
- rs3120133
- rs3789375
- rs3789379
- rs3789387
- rs3789391
- rs3789405
- rs3789427
- rs3789431
- rs3789435
- rs3789439
- rs3789445
- rs3789448
- rs4147798
- rs4147825
- rs4147834
- rs4147836
- rs4147845
- rs4147849
- rs4147860
- rs4147866
- rs4847196
- rs6658767
- rs6664100
- rs6673287
- rs6677398
- rs6677399
- rs6703052
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.