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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs4821480
rs4821480 		0.807 0.160 22 36299201 intron variant G/T snv 0.78
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 0.500 2 2011 2012
dbSNP: rs4821480
rs4821480 		0.807 0.160 22 36299201 intron variant G/T snv 0.78
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 0.500 2 2011 2012
dbSNP: rs80338831
rs80338831 		0.882 0.320 22 36292060 missense variant C/A;G;T snv
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.830 1.000 12 2000 2011
dbSNP: rs80338834
rs80338834 		0.925 0.160 22 36284474 missense variant C/T snv
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.830 1.000 12 2000 2006
dbSNP: rs121913655
rs121913655 		1.000 0.160 22 36348958 missense variant G/A;C snv 2.4E-05
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.800 1.000 11 2000 2006
dbSNP: rs121913656
rs121913656 		22 36295526 missense variant G/A snv
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.800 1.000 11 2000 2006
dbSNP: rs121913657
rs121913657 		0.882 0.160 22 36348950 missense variant G/A snv
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.800 1.000 11 2000 2006