MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338835
rs80338835
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME
0.710 GeneticVariation BEFREE R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura. 23759689 2014
dbSNP: rs80338835
rs80338835
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME
A 0.710 CausalMutation CLINVAR