Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044885
rs797044885
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development. 22513377

2012