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: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME 		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
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME 		0.720 GeneticVariation BEFREE Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly. 11752022 2002
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME 		T 0.720 CausalMutation CLINVAR
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME 		A 0.720 CausalMutation CLINVAR