Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368196005
rs368196005
NBAS
0.810 GeneticVariation BEFREE Fibroblasts of a patient with Infantile Liver Failure Syndrome 2 (OMIM #616483) due to a homozygous missense variant in the neuroblastoma amplified sequence gene (NBAS; c.[2708T>G]; c.[2708T>G]/p. 30772683

2019
dbSNP: rs368196005
rs368196005
NBAS
0.810 GeneticVariation UNIPROT Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 26073778

2015
dbSNP: rs368196005
rs368196005
NBAS
C 0.810 CausalMutation CLINVAR