Gene: MTHFD1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555336810
rs1555336810
MTHFD1
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
MTHFD1
0.800 GeneticVariation UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659

2017
dbSNP: rs1555337681
rs1555337681
MTHFD1
0.800 GeneticVariation UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659

2017
dbSNP: rs370444838
rs370444838
MTHFD1
0.800 GeneticVariation UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659

2017
dbSNP: rs1555336810
rs1555336810
MTHFD1
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: rs1555337681
rs1555337681
MTHFD1
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: rs1555337681
rs1555337681
MTHFD1
T 0.800 GeneticVariation CLINVAR Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902

2015
dbSNP: rs370444838
rs370444838
MTHFD1
T 0.800 GeneticVariation CLINVAR Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902

2015
dbSNP: rs370444838
rs370444838
MTHFD1
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: rs141210410
rs141210410
MTHFD1
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: rs1555336810
rs1555336810
MTHFD1
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: rs1555337681
rs1555337681
MTHFD1
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: rs370444838
rs370444838
MTHFD1
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: rs141210410
rs141210410
MTHFD1
T 0.800 CausalMutation CLINVAR

dbSNP: rs141210410
rs141210410
MTHFD1
0.800 GeneticVariation UNIPROT

dbSNP: rs1555336810
rs1555336810
MTHFD1
C 0.800 CausalMutation CLINVAR

dbSNP: rs370444838
rs370444838
MTHFD1
T 0.800 CausalMutation CLINVAR

dbSNP: rs760889414
rs760889414
MTHFD1
T 0.700 CausalMutation CLINVAR Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902

2015