MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
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: rs121913655
rs121913655 		1.000 0.160 22 36348958 missense variant G/A;C snv 2.4E-05
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1430793034
rs1430793034 		1.000 0.080 22 36285296 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1430793034
rs1430793034 		1.000 0.080 22 36285296 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		0.700 0
dbSNP: rs587776808
rs587776808 		22 36282730 frameshift variant C/- delins
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs797044804
rs797044804 		1.000 0.160 22 36291990 missense variant T/A snv
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs797044804
rs797044804 		1.000 0.160 22 36291990 missense variant T/A snv
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs80338828
rs80338828 		0.851 0.200 22 36305975 missense variant C/T snv
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C4022866
Disease: Abnormal platelet shape
Abnormal platelet shape 		0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C1096367
Disease: Increased mean platelet volume
Increased mean platelet volume 		0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0014591
Disease: Epistaxis
Epistaxis 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology 		0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		0.700 0
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: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.710 1.000 1 2002 2002
dbSNP: rs80338826
rs80338826 		0.827 0.320 22 36305985 missense variant G/A snv
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 1 2011 2011
dbSNP: rs80338829
rs80338829 		0.851 0.200 22 36295069 missense variant G/A snv
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 1 2007 2007
dbSNP: rs80338834
rs80338834 		0.925 0.160 22 36284474 missense variant C/T snv
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 1 2002 2002
dbSNP: rs80338835
rs80338835 		0.925 0.200 22 36282754 stop gained G/A snv 4.0E-06 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 1 2014 2014
dbSNP: rs13053731
rs13053731 		22 36286661 intron variant G/A snv 5.7E-02
CUI: C1285654
Disease: Memory performance
Memory performance 		0.700 1.000 1 2017 2017
dbSNP: rs136211
rs136211 		22 36362502 intron variant A/G snv 0.62
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016