Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338831
rs80338831
MYH9
0.830 GeneticVariation BEFREE Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly. 11752022

2002
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 BEFREE 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: rs80338831
rs80338831
MYH9
0.830 GeneticVariation BEFREE These findings were consistent with MHA and they were identified to express the MYH9 mutation, D1424H. 21329637

2011
dbSNP: rs80338835
rs80338835
MYH9
0.730 GeneticVariation BEFREE The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS. 11590545

2001
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: rs80338834
rs80338834
MYH9
0.830 GeneticVariation BEFREE Six distinct missense heterozygous mutations were found in 10 families, including six families with MHA or SBS (E1841K, D1424N), three families with FS (R702H, R1165C, and D1424Y), and one family with EPS (S96L). 16098078

2005
dbSNP: rs780187879
rs780187879
DNAH8
0.010 GeneticVariation BEFREE Six distinct missense heterozygous mutations were found in 10 families, including six families with MHA or SBS (E1841K, D1424N), three families with FS (R702H, R1165C, and D1424Y), and one family with EPS (S96L). 16098078

2005
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: rs80338827
rs80338827
MYH9
0.810 GeneticVariation BEFREE 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 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: 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 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: rs80338827
rs80338827
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