Variant: rs370384522 

    present in Gene: CDCA7
    present in Chromosome: 2
    Position on Chromosome: 173366305
    Alleles of this Variant: G/A

rs370384522 in CDCA7 gene and IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 PMID 26216346 2015 Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.