Details for Combination OLI1691

VARIANTS LRP1B:c.2568C>G, p.His856Gln in Heterozygous form; ALDH1A2:c.173A>G, p.Tyr58Cys in Heterozygous form; CDHR1:c.1397A>G, p.Asn466Ser in Heterozygous form
GENE COMBINATION ALDH1A2; CDHR1; LRP1B
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
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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