LCT, lactase, 3938

N. diseases: 90; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3754689
rs3754689
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0019069
Disease:
Hemophilia A 		0.010 GeneticVariation BEFREE A recent study showed that there is a correlation between the risk of inhibitor development and LCT rs3754689 polymorphism among Italian hemophilia A patients. 31644449 2020
dbSNP: rs3754689
rs3754689
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0272322
Disease:
Severe hereditary factor VIII deficiency disease 		0.010 GeneticVariation BEFREE Investigating the influence of LCT rs3754689 polymorphism on inhibitor development in Iranian and Afghan patients with severe hemophilia A. 31644449 2020
dbSNP: rs35837297
rs35837297
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs35940156
rs35940156
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1030766
rs1030766
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs16832011
rs16832011
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0202177
Disease:
Phospholipid measurement 		A 0.700 GeneticVariation GWASDB Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. 21829377 2011
dbSNP: rs121908936
rs121908936
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0268179
Disease:
Lactase Deficiency, Congenital 		T 0.700 CausalMutation CLINVAR
dbSNP: rs386833832
rs386833832
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0268179
Disease:
Lactase Deficiency, Congenital 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs386833834
rs386833834
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0268179
Disease:
Lactase Deficiency, Congenital 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs386833835
rs386833835
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0268179
Disease:
Lactase Deficiency, Congenital 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs386833836
rs386833836
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0268179
Disease:
Lactase Deficiency, Congenital 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs386833837
rs386833837
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0268179
Disease:
Lactase Deficiency, Congenital 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs386833838
rs386833838
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0268179
Disease:
Lactase Deficiency, Congenital 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs121908937
rs121908937
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0268179
Disease:
Lactase Deficiency, Congenital 		0.800 GeneticVariation UNIPROT Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. 16400612 2006
dbSNP: rs386833833
rs386833833
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0268179
Disease:
Lactase Deficiency, Congenital 		0.800 GeneticVariation UNIPROT Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. 16400612 2006
dbSNP: rs121908937
rs121908937
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0268179
Disease:
Lactase Deficiency, Congenital 		G 0.800 CausalMutation CLINVAR
dbSNP: rs386833833
rs386833833
Entrez Id: 3938
Gene Symbol: LCT
LCT
CUI: C0268179
Disease:
Lactase Deficiency, Congenital 		T 0.800 GeneticVariation CLINVAR