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rs863225180

From SNPedia

ClinVar
Risk rs863225180(;)
Alt rs863225180(;)
Reference rs863225180(AGTA;AGTA)
Significance Pathogenic
Disease Meckel syndrome type 6 Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6 Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15581798_15581801delAGTA
CLNSRC
CLNACC RCV000049723.1, RCV000201729.1,