RS114846212 CRB1

Health Risk Chr 1:197344291 snv missense variant
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Associated Conditions
Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis
Retinal dystrophy
CRB1-related disorder
Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis
Retinal dystrophy
CRB1-related disorder
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
0.1%
1kG AMR
100%
1kG EAS
99.3%
1kG EUR
100%
1kG SAS
100%
Other Variants in CRB1
rs62635656 rs62635655 rs62635654 rs28939720 rs62635659 rs137853136 rs137853137 rs62636291 rs137853138 rs62636275
Ask Dr. Hemsworth about this variant