RS111033265 USH2A

Health Risk Chr 1:215782057 snv missense variant
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What This Variant Does
"CLNSIG=4
Associated Conditions
Rare genetic deafness
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
USH2A-related disorder
Autosomal dominant nonsyndromic hearing loss 36
Usher syndrome type 2A
Rare genetic deafness
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
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