MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: SEBASTIAN SYNDROME ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338827
rs80338827 		0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.710 1.000 2 2002 2019