RS111033264 USH2A

Health Risk Chr 1:215782761 snv missense variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39
Rare genetic deafness
Retinal dystrophy
See cases
USH2A-related disorder
Retinal disorder
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39
Rare genetic deafness
Retinal dystrophy
See cases
USH2A-related disorder
Population Frequencies
gnomAD ALL
100%
Other Variants in USH2A
rs80338903 rs397518008 rs111033367 rs121912598 rs121912599 rs80338902 rs111033364 rs111033272 rs121912600 rs587776538
Ask Dr. Hemsworth about this variant