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rs761382780

From SNPedia

ClinVar
Risk rs761382780(;)
Alt rs761382780(;)
Reference rs761382780(AGAA;AGAA)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68071282_68071285delAGAA
CLNSRC
CLNACC RCV000201671.1,