Gene: NBAS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368085185
rs368085185
NBAS
A 0.700 CausalMutation CLINVAR NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. 26286438

2015
dbSNP: rs1310897090
rs1310897090
NBAS
0.010 GeneticVariation BEFREE Patient 2: NBAS c.5741G>A p.(Arg1914His); c.2032C>T p.(Gln678*) in a 5-year old boy with similar presenting features, bone fragility, mild developmental delay, abnormal liver function tests and immunodeficiency. 27789416

2017