Variant: rs387907105

present in Gene: ZBTB24 present in Chromosome: 6 Position on Chromosome: 109475465 Alleles of this Variant: A/C

rs387907105 in ZBTB24 gene and IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 PMID 21596365 2011 Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.