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rs758550675

From SNPedia

ClinVar
Risk rs758550675(;)
Alt rs758550675(;)
Reference rs758550675(TGAG;TGAG)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290 TMTC3
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88534746_88534749delTGAG
CLNSRC
CLNACC RCV000201609.1,