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rs863225196

From SNPedia

ClinVar
Risk rs863225196(;)
Alt rs863225196(;)
Reference rs863225196(AT;AT)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.67998297_67998298delTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000087073.5,