Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338831
rs80338831
MYH9
0.720 GeneticVariation BEFREE Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 12649151

2003
dbSNP: rs80338831
rs80338831
MYH9
0.720 GeneticVariation BEFREE Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly. 11752022

2002
dbSNP: rs80338831
rs80338831
MYH9
T 0.720 CausalMutation CLINVAR

dbSNP: rs80338831
rs80338831
MYH9
A 0.720 CausalMutation CLINVAR

dbSNP: rs80338827
rs80338827
MYH9
T 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs80338835
rs80338835
MYH9
0.710 GeneticVariation BEFREE R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura. 23759689

2014
dbSNP: rs80338826
rs80338826
MYH9
0.710 GeneticVariation BEFREE Transfection of cells with three MYH9 mutations frequently responsible for MYH9-RD (p.R702</span>C, p.D1424H, or p.R1933X) resulted in a defective SDF-1-driven migration with respect to the wild-type counterpart and in increased cell spreading onto collagen. 21833445

2011
dbSNP: rs80338829
rs80338829
MYH9
0.710 GeneticVariation BEFREE Clusters of NMMHC-IIA in granulocytes and a R1165C mutation in the MYH9-gene in two macrothrombocytopenic family members confirmed the diagnosis of a MYH9-related disease. 17655694

2007
dbSNP: rs121913657
rs121913657
MYH9
0.710 GeneticVariation BEFREE The two others (R1165L and S96L) are new mutations, although one of them affects a codon (R1165), found elsewhere to be mutated in Sebastian syndrome. 11752022

2002
dbSNP: rs80338827
rs80338827
MYH9
0.710 GeneticVariation BEFREE On the contrary, the R702H mutation does not allow the protein to aggregate and thus to generate "Döhle-like" bodies, which are indeed absent in EPTS. 11935325

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

2002
dbSNP: rs121913657
rs121913657
MYH9
A 0.710 CausalMutation CLINVAR

dbSNP: rs80338826
rs80338826
MYH9
A 0.710 CausalMutation CLINVAR

dbSNP: rs80338829
rs80338829
MYH9
A 0.710 CausalMutation CLINVAR

dbSNP: rs80338834
rs80338834
MYH9
T 0.710 CausalMutation CLINVAR

dbSNP: rs80338835
rs80338835
MYH9
A 0.710 CausalMutation CLINVAR

dbSNP: rs867593888
rs867593888
MYH9
C 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs121913655
rs121913655
MYH9
C 0.700 CausalMutation CLINVAR

dbSNP: rs797044804
rs797044804
MYH9
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80338828
rs80338828
MYH9
0.010 GeneticVariation BEFREE R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 24890873

2015
dbSNP: rs727503284
rs727503284
MYH9
0.010 GeneticVariation BEFREE We describe a Chinese family with an MYH9-related disorder in which a novel mutation V1516L at exon 31 of the MYH9 gene was identified. 16818291

2006
dbSNP: rs80338830
rs80338830
MYH9
0.010 GeneticVariation BEFREE The two others (R1165L and S96L) are new mutations, although one of them affects a codon (R1165), found elsewhere to be mutated in Sebastian syndrome. 11752022

2002