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rs587776589

From SNPedia

ClinVar
Risk rs587776589(;)
Alt rs587776589(;)
Reference rs587776589(CCGGAAGCAGG;CCGGAAGCAGG)
Significance Pathogenic
Disease Retinitis pigmentosa 11
Variation info
Gene PRPF31
CLNDBN Retinitis pigmentosa 11
Reversed 0
HGVS NC_000019.9:g.54631721_54631731delGGAAGCAGGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004606.3,