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rs863223294

From SNPedia

ClinVar
Risk rs863223294(TGG;TGG)
Alt rs863223294(TGG;TGG)
Reference rs863223294(GCGTC;GCGTC)
Significance Pathogenic
Disease Cone-rod dystrophy X-linked 3
Variation info
Gene CACNA1F
CLNDBN Cone-rod dystrophy X-linked 3
Reversed 1
HGVS NC_000023.10:g.49071701_49071705delGACGCinsCCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012386.24,