Details for Combination OLI1693

VARIANTS ADAMTS9:c.3967C>T, p.Arg1323Cys in Heterozygous form; ADAMTS8:c.707G>A, p.Gly236Glu in Heterozygous form
GENE COMBINATION ADAMTS8; ADAMTS9
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 148300; 617928
DISEASES Non-Syndromic genetic keratoconus
REFERENCES 37895187
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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