Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338831
rs80338831
MYH9
A 0.830 CausalMutation CLINVAR

dbSNP: rs80338831
rs80338831
MYH9
G 0.830 CausalMutation CLINVAR

dbSNP: rs80338831
rs80338831
MYH9
T 0.830 CausalMutation CLINVAR

dbSNP: rs80338834
rs80338834
MYH9
T 0.830 CausalMutation CLINVAR

dbSNP: rs80338826
rs80338826
MYH9
A 0.810 CausalMutation CLINVAR

dbSNP: rs80338827
rs80338827
MYH9
T 0.810 CausalMutation CLINVAR

dbSNP: rs121913655
rs121913655
MYH9
C 0.800 CausalMutation CLINVAR

dbSNP: rs121913656
rs121913656
MYH9
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913657
rs121913657
MYH9
A 0.800 CausalMutation CLINVAR

dbSNP: rs80338829
rs80338829
MYH9
A 0.800 CausalMutation CLINVAR

dbSNP: rs80338830
rs80338830
MYH9
A 0.800 CausalMutation CLINVAR

dbSNP: rs80338835
rs80338835
MYH9
A 0.730 CausalMutation CLINVAR

dbSNP: rs587776808
rs587776808
MYH9
T 0.700 CausalMutation CLINVAR

dbSNP: rs797044804
rs797044804
MYH9
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338828
rs80338828
MYH9
T 0.700 CausalMutation CLINVAR

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

2003
dbSNP: rs80338835
rs80338835
MYH9
0.730 GeneticVariation BEFREE R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura. 23759689

2014
dbSNP: rs782426204
rs782426204
F8
0.010 GeneticVariation BEFREE A patient, HA78, with MHA with a novel P1809L missense mutation in the A3 domain, exhibited significant residual FVIII activity ( 26278069

2015
dbSNP: rs80338835
rs80338835
MYH9
0.730 GeneticVariation BEFREE A truncating mutation (R1933X) was found in three MHA families. 16098078

2005
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: 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: rs80338827
rs80338827
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