Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908106
rs121908106
0.820 GeneticVariation BEFREE These findings indicate that the effects of the P660L mutation in MYO5B in Navajo MVID patients are not limited to the small intestine, but that certain tissues may be able to compensate functionally for alterations in apical trafficking. 29218485

2018

dbSNP: rs121908106
rs121908106
0.820 GeneticVariation BEFREE In patients with MVID, MYO5B-P660L results in global changes in polarity at the villus tips that could account for deficits in apical absorption, loss of microvilli, aberrant junctions, and losses in transcellular ion transport pathways, likely leading to the MVID clinical phenotype of neonatal secretory diarrhea. 24892806

2014

dbSNP: rs121908106
rs121908106
0.820 GeneticVariation UNIPROT In patients with MVID, MYO5B-P660L results in global changes in polarity at the villus tips that could account for deficits in apical absorption, loss of microvilli, aberrant junctions, and losses in transcellular ion transport pathways, likely leading to the MVID clinical phenotype of neonatal secretory diarrhea. 24892806

2014

dbSNP: rs121908106
rs121908106
0.820 GeneticVariation UNIPROT Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. 24138727

2014

dbSNP: rs121908106
rs121908106
0.820 GeneticVariation UNIPROT Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. 21206382

2011

dbSNP: rs121908106
rs121908106
0.820 GeneticVariation UNIPROT Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. 20186687

2010

dbSNP: rs121908106
rs121908106
0.820 GeneticVariation UNIPROT MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368

2008

dbSNP: rs121908106
rs121908106
0.820 GeneticVariation UNIPROT Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234

2008

dbSNP: rs121908106
rs121908106
A 0.820 CausalMutation CLINVAR

dbSNP: rs121908103
rs121908103
0.800 GeneticVariation UNIPROT Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. 24138727

2014

dbSNP: rs121908103
rs121908103
0.800 GeneticVariation UNIPROT Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. 24892806

2014

dbSNP: rs121908105
rs121908105
0.800 GeneticVariation UNIPROT Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. 24138727

2014

dbSNP: rs121908105
rs121908105
0.800 GeneticVariation UNIPROT Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. 24892806

2014

dbSNP: rs121908103
rs121908103
0.800 GeneticVariation UNIPROT Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. 21206382

2011

dbSNP: rs121908105
rs121908105
0.800 GeneticVariation UNIPROT Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. 21206382

2011

dbSNP: rs121908103
rs121908103
0.800 GeneticVariation UNIPROT Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. 20186687

2010

dbSNP: rs121908105
rs121908105
0.800 GeneticVariation UNIPROT Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. 20186687

2010

dbSNP: rs121908103
rs121908103
0.800 GeneticVariation UNIPROT MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368

2008

dbSNP: rs121908103
rs121908103
0.800 GeneticVariation UNIPROT Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234

2008

dbSNP: rs121908105
rs121908105
0.800 GeneticVariation UNIPROT MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368

2008

dbSNP: rs121908105
rs121908105
0.800 GeneticVariation UNIPROT Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234

2008

dbSNP: rs121908103
rs121908103
C 0.800 CausalMutation CLINVAR

dbSNP: rs121908105
rs121908105
A 0.800 CausalMutation CLINVAR

dbSNP: rs1555648414
rs1555648414
0.700 GeneticVariation UNIPROT Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. 24138727

2014

dbSNP: rs1555648414
rs1555648414
0.700 GeneticVariation UNIPROT Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. 24892806

2014