RS111033273 USH2A

Health Risk Chr 1:216321920 snv missense variant
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What This Variant Does
"Identification of novel USH2A mutations: implications for the structure of USH2A protein. Evaluation...
Associated Conditions
Rare genetic deafness
Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome
Retinal disorder
Retinitis pigmentosa
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Rare genetic deafness
Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome type 2A
Population Frequencies
gnomAD ALL
0%
Other Variants in USH2A
rs80338903 rs397518008 rs111033367 rs121912598 rs121912599 rs80338902 rs111033364 rs111033272 rs121912600 rs587776538
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