Disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. 21813566 2011
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		C 0.800 GeneticVariation CLINVAR Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017