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rs797045107

From SNPedia

ClinVar
Risk rs797045107(C;C)
Alt rs797045107(C;C)
Reference rs797045107(GCTTCGCCA;GCTTCGCCA)
Significance Pathogenic
Disease Corneal endothelial dystrophy type 2
Variation info
Gene SLC4A11
CLNDBN Corneal endothelial dystrophy type 2
Reversed 1
HGVS NC_000020.10:g.3214819_3214827delinsG
CLNSRC
CLNACC RCV000190625.1,