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rs797045104

From SNPedia

ClinVar
Risk rs797045104(TC;TC)
Alt rs797045104(TC;TC)
Reference rs797045104(;)
Significance Probable-Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53656262_53656263insGA
CLNSRC
CLNACC RCV000190621.1,