Gene: MYO5B ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908106
rs121908106
MYO5B
A 0.820 CausalMutation CLINVAR

dbSNP: rs121908103
rs121908103
MYO5B
C 0.800 CausalMutation CLINVAR

dbSNP: rs121908105
rs121908105
MYO5B
A 0.800 CausalMutation CLINVAR

dbSNP: rs1053713532
rs1053713532
MYO5B
0.700 GeneticVariation UNIPROT

dbSNP: rs121908104
rs121908104
MYO5B
T 0.700 CausalMutation CLINVAR

dbSNP: rs1283622290
rs1283622290
MYO5B
0.700 GeneticVariation UNIPROT

dbSNP: rs1324907355
rs1324907355
MYO5B
0.700 GeneticVariation UNIPROT

dbSNP: rs1555793103
rs1555793103
MYO5B ; SNHG22
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555793199
rs1555793199
MYO5B ; SNHG22
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1568049625
rs1568049625
MYO5B
C 0.700 CausalMutation CLINVAR

dbSNP: rs753558336
rs753558336
MYO5B
0.700 GeneticVariation UNIPROT

dbSNP: rs762039116
rs762039116
MYO5B ; SNHG22
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908106
rs121908106
MYO5B
0.820 GeneticVariation UNIPROT Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. 21206382

2011
dbSNP: rs121908103
rs121908103
MYO5B
0.800 GeneticVariation UNIPROT Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. 21206382

2011
dbSNP: rs121908105
rs121908105
MYO5B
0.800 GeneticVariation UNIPROT Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. 21206382

2011
dbSNP: rs1555648414
rs1555648414
MYO5B
0.700 GeneticVariation UNIPROT Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. 21206382

2011
dbSNP: rs121908106
rs121908106
MYO5B
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
MYO5B
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
MYO5B
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: rs121908103
rs121908103
MYO5B
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
MYO5B
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: rs1555648414
rs1555648414
MYO5B
0.700 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
MYO5B
0.820 GeneticVariation UNIPROT Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. 24138727

2014
dbSNP: rs121908103
rs121908103
MYO5B
0.800 GeneticVariation UNIPROT Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. 24138727

2014
dbSNP: rs121908105
rs121908105
MYO5B
0.800 GeneticVariation UNIPROT Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. 24138727

2014