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rs398122866

From SNPedia

ClinVar
Risk
Alt
Reference Rs398122866(AGCAAAAATTAAAATGGA;AGCAAAAATTAAAATGGA)
Significance Pathogenic
Disease Joubert syndrome 10 Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Joubert syndrome 10 Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13764932_13764949del18
CLNSRC OMIM Allelic Variant
CLNACC RCV000029157.24, RCV000256359.1,