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rs281865175

From SNPedia

ClinVar
Risk rs281865175(;)
Alt rs281865175(;)
Reference rs281865175(AGGGCAACTC;AGGGCAACTC)
Significance Pathogenic
Disease Retinitis pigmentosa 12 Leber congenital amaurosis 8 not provided
Variation info
Gene CRB1
CLNDBN Retinitis pigmentosa 12 Leber congenital amaurosis 8 not provided
Reversed 0
HGVS NC_000001.10:g.197446909_197446918delCAACTCAGGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000006095.3, RCV000006096.3, RCV000086353.1,