MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: SEBASTIAN SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338827
rs80338827
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME 		T 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs80338827
rs80338827
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME 		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