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rs869320617

From SNPedia

ClinVar
Risk rs869320617(GGCCGGCCGG;GGCCGGCCGG)
Alt rs869320617(GGCCGGCCGG;GGCCGGCCGG)
Reference rs869320617(TGCCCGTCTGC;TGCCCGTCTGC)
Significance Pathogenic
Disease Corneal endothelial dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal endothelial dystrophy
Reversed 1
HGVS NC_000020.10:g.3209663_3209673delGCAGACGGGCAinsCCGGCCGGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001373.2,