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: 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
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: 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