Gene: MYH9 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338831
rs80338831
MYH9
0.830 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs80338834
rs80338834
MYH9
0.830 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs80338826
rs80338826
MYH9
0.810 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs80338827
rs80338827
MYH9
0.810 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs121913655
rs121913655
MYH9
0.800 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs121913656
rs121913656
MYH9
0.800 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs121913657
rs121913657
MYH9
0.800 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs80338829
rs80338829
MYH9
0.800 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs80338830
rs80338830
MYH9
0.800 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs200901330
rs200901330
MYH9
0.700 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs554332083
rs554332083
MYH9
0.700 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs76368635
rs76368635
MYH9
0.700 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs80338831
rs80338831
MYH9
0.830 GeneticVariation UNIPROT Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 12649151

2003
dbSNP: rs80338831
rs80338831
MYH9
0.830 GeneticVariation UNIPROT Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. 12533692

2003
dbSNP: rs80338831
rs80338831
MYH9
0.830 GeneticVariation UNIPROT MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. 12792306

2003
dbSNP: rs80338831
rs80338831
MYH9
0.830 GeneticVariation UNIPROT Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. 12621333

2003
dbSNP: rs80338834
rs80338834
MYH9
0.830 GeneticVariation UNIPROT Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. 12533692

2003
dbSNP: rs80338834
rs80338834
MYH9
0.830 GeneticVariation UNIPROT Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. 12621333

2003
dbSNP: rs80338834
rs80338834
MYH9
0.830 GeneticVariation UNIPROT Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 12649151

2003
dbSNP: rs80338834
rs80338834
MYH9
0.830 GeneticVariation UNIPROT MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. 12792306

2003
dbSNP: rs80338826
rs80338826
MYH9
0.810 GeneticVariation UNIPROT Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. 12533692

2003
dbSNP: rs80338826
rs80338826
MYH9
0.810 GeneticVariation UNIPROT Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 12649151

2003
dbSNP: rs80338826
rs80338826
MYH9
0.810 GeneticVariation UNIPROT MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. 12792306

2003
dbSNP: rs80338826
rs80338826
MYH9
0.810 GeneticVariation UNIPROT Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. 12621333

2003