Gene: MYH9 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76368635
rs76368635
MYH9
0.700 GeneticVariation UNIPROT Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 10973260

2000
dbSNP: rs80338831
rs80338831
MYH9
0.830 GeneticVariation UNIPROT The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS. 11590545

2001
dbSNP: rs80338834
rs80338834
MYH9
0.830 GeneticVariation UNIPROT The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS. 11590545

2001
dbSNP: rs80338826
rs80338826
MYH9
0.810 GeneticVariation UNIPROT R702C and R702H mutations were only associated with FTNS, EPS, or APSM, thus defining a region of MYHIIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness. 11590545

2001
dbSNP: rs80338827
rs80338827
MYH9
0.810 GeneticVariation UNIPROT R702C and R702H mutations were only associated with FTNS, EPS, or APSM, thus defining a region of MYHIIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness. 11590545

2001
dbSNP: rs121913655
rs121913655
MYH9
0.800 GeneticVariation UNIPROT Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 11590545

2001
dbSNP: rs121913656
rs121913656
MYH9
0.800 GeneticVariation UNIPROT Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 11590545

2001
dbSNP: rs121913657
rs121913657
MYH9
0.800 GeneticVariation UNIPROT Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 11590545

2001
dbSNP: rs80338829
rs80338829
MYH9
0.800 GeneticVariation UNIPROT Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 11590545

2001
dbSNP: rs80338830
rs80338830
MYH9
0.800 GeneticVariation UNIPROT Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 11590545

2001
dbSNP: rs200901330
rs200901330
MYH9
0.700 GeneticVariation UNIPROT Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 11590545

2001
dbSNP: rs554332083
rs554332083
MYH9
0.700 GeneticVariation UNIPROT Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 11590545

2001
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 11590545

2001
dbSNP: rs76368635
rs76368635
MYH9
0.700 GeneticVariation UNIPROT Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 11590545

2001
dbSNP: rs80338831
rs80338831
MYH9
0.830 GeneticVariation UNIPROT Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly. 11752022

2002
dbSNP: rs80338834
rs80338834
MYH9
0.830 GeneticVariation UNIPROT Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly. 11752022

2002
dbSNP: rs80338826
rs80338826
MYH9
0.810 GeneticVariation UNIPROT Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 11752022

2002
dbSNP: rs80338827
rs80338827
MYH9
0.810 GeneticVariation UNIPROT Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 11752022

2002
dbSNP: rs121913655
rs121913655
MYH9
0.800 GeneticVariation UNIPROT Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 11752022

2002
dbSNP: rs121913656
rs121913656
MYH9
0.800 GeneticVariation UNIPROT Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 11752022

2002
dbSNP: rs121913657
rs121913657
MYH9
0.800 GeneticVariation UNIPROT Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 11752022

2002
dbSNP: rs80338829
rs80338829
MYH9
0.800 GeneticVariation UNIPROT Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 11752022

2002
dbSNP: rs80338830
rs80338830
MYH9
0.800 GeneticVariation UNIPROT Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 11752022

2002
dbSNP: rs200901330
rs200901330
MYH9
0.700 GeneticVariation UNIPROT Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 11752022

2002
dbSNP: rs554332083
rs554332083
MYH9
0.700 GeneticVariation UNIPROT Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 11752022

2002