RS138359497 ABCA4

Health Risk Chr 1:94108648 snv missense variant
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Associated Conditions
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Population Frequencies
gnomAD ALL
0%
1kG AFR
99.8%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in ABCA4
rs58331765 rs61751408 rs61749438 rs61750061 rs61750064 rs1800553 rs61751386 rs28938473 rs61753034 rs61751374
Ask Dr. Hemsworth about this variant