Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434322
rs121434322
CBLIF
0.800 GeneticVariation UNIPROT Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. 15738392

2005
dbSNP: rs121434322
rs121434322
CBLIF
A 0.800 CausalMutation CLINVAR

dbSNP: rs147785187
rs147785187
CBLIF
T 0.700 CausalMutation CLINVAR Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario. 25308559

2015
dbSNP: rs147785187
rs147785187
CBLIF
T 0.700 CausalMutation CLINVAR Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. 22929189

2012
dbSNP: rs765896727
rs765896727
CBLIF
G 0.700 CausalMutation CLINVAR Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. 22929189

2012
dbSNP: rs147785187
rs147785187
CBLIF
T 0.700 CausalMutation CLINVAR Vitamin B12 deficiency in a 15-year old boy due to mutations in the intrinsic factor gene, GIF. 20408840

2010
dbSNP: rs765896727
rs765896727
CBLIF
G 0.700 CausalMutation CLINVAR Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF. 19036097

2009
dbSNP: rs147785187
rs147785187
CBLIF
T 0.700 CausalMutation CLINVAR Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. 15738392

2005
dbSNP: rs147785187
rs147785187
CBLIF
T 0.700 CausalMutation CLINVAR Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. 14576042

2004
dbSNP: rs3901533
rs3901533
CLEC7A ; LOC105369655
0.010 GeneticVariation BEFREE In conclusion, two Dectin-1 SNPs (rs3901533 and rs7309123) are associated with increased susceptibility to pulmonary IFD in AML patients in a Chinese Han population. 31845221

2019
dbSNP: rs7309123
rs7309123
CLEC7A ; LOC105369655
0.010 GeneticVariation BEFREE In conclusion, two Dectin-1 SNPs (rs3901533 and rs7309123) are associated with increased susceptibility to pulmonary IFD in AML patients in a Chinese Han population. 31845221

2019
dbSNP: rs5743708
rs5743708
TLR2
0.010 GeneticVariation BEFREE Patients carrying the TLR2 SNP rs5743708 (R753Q, GA/AA genotype, n = 12) also revealed a significantly higher susceptibility to pneumonia including IFD. 26963509

2016