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: rs121913657
rs121913657
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME 		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: rs121913657
rs121913657
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME 		A 0.710 CausalMutation CLINVAR