Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141210410
rs141210410
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
T 0.800 GeneticVariation CLINVAR 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: rs141210410
rs141210410
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
T 0.800 CausalMutation CLINVAR
dbSNP: rs141210410
rs141210410
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 GeneticVariation UNIPROT