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rs780624853

From SNPedia

ClinVar
Risk rs780624853(;)
Alt rs780624853(;)
Reference rs780624853(TTCT;TTCT)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88478612_88478615delTTCT
CLNSRC
CLNACC RCV000201704.1,