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rs549932754

From SNPedia

ClinVar
Risk rs549932754(CCCGGG;CCCGGG)
Alt rs549932754(CCCGGG;CCCGGG)
Reference rs549932754(;)
Significance Pathogenic
Disease Cone-rod dystrophy 11
Variation info
Gene RAX2
CLNDBN Cone-rod dystrophy 11
Reversed 0
HGVS NC_000019.9:g.3770752_3770757dupCCCGGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001301.4,