Disease: ASPARAGINE SYNTHETASE DEFICIENCY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122973
rs398122973
Entrez Id: 440;107986827
Gene Symbol: ASNS;CZ1P-ASNS
ASNS;CZ1P-ASNS
CUI: C3809971
Disease:
ASPARAGINE SYNTHETASE DEFICIENCY 		0.800 GeneticVariation UNIPROT Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. 24139043 2013
dbSNP: rs398122973
rs398122973
Entrez Id: 440;107986827
Gene Symbol: ASNS;CZ1P-ASNS
ASNS;CZ1P-ASNS
CUI: C3809971
Disease:
ASPARAGINE SYNTHETASE DEFICIENCY 		C 0.800 CausalMutation CLINVAR