MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: DEAFNESS, AUTOSOMAL DOMINANT 17 ×
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: rs80338828
rs80338828 		0.851 0.200 22 36305975 missense variant C/T snv
CUI: C1863659
Disease: DEAFNESS, AUTOSOMAL DOMINANT 17
DEAFNESS, AUTOSOMAL DOMINANT 17 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.810 1.000 1 2000 2000
dbSNP: rs121913657
rs121913657 		0.882 0.160 22 36348950 missense variant G/A snv
CUI: C1863659
Disease: DEAFNESS, AUTOSOMAL DOMINANT 17
DEAFNESS, AUTOSOMAL DOMINANT 17 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 2002 2016