RS111033529 USH2A

Health Risk Chr 1:215878890 snv missense variant
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What This Variant Does
"CLNSIG=4
Associated Conditions
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
99.5%
Other Variants in USH2A
rs80338903 rs397518008 rs111033367 rs121912598 rs121912599 rs80338902 rs111033364 rs111033272 rs121912600 rs587776538
Ask Dr. Hemsworth about this variant