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rs863225191

From SNPedia

ClinVar
Risk rs863225191(AAGAAAG;AAGAAAG)
Alt rs863225191(AAGAAAG;AAGAAAG)
Reference rs863225191(;)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68071297_68071303dupAGAAGAA
CLNSRC
CLNACC RCV000201734.1,