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: rs12107
rs12107 		1.000 0.040 22 36281936 3 prime UTR variant G/A;T snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12107
rs12107 		1.000 0.040 22 36281936 3 prime UTR variant G/A;T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12107
rs12107 		1.000 0.040 22 36281936 3 prime UTR variant G/A;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
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: rs80338835
rs80338835 		0.925 0.200 22 36282754 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.730 1.000 3 2001 2014
dbSNP: rs80338835
rs80338835 		0.925 0.200 22 36282754 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
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: rs735853
rs735853 		1.000 0.120 22 36283169 intron variant C/G snv 0.34
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2011 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: rs80338834
rs80338834 		0.925 0.160 22 36284474 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 1.000 1 2016 2016
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: rs2071732
rs2071732 		22 36284668 intron variant C/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs762773112
rs762773112 		22 36285158 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 1.000 11 2000 2006
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: 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: rs2269529
rs2269529 		0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2269529
rs2269529 		0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2269529
rs2269529 		0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2269529
rs2269529 		0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2018 2018
dbSNP: rs2269529
rs2269529 		0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11912763
rs11912763 		1.000 0.160 22 36288676 intron variant G/A snv 1.5E-02 6.0E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11912763
rs11912763 		1.000 0.160 22 36288676 intron variant G/A snv 1.5E-02 6.0E-02
CUI: C0078911
Disease: AIDS-Associated Nephropathy
AIDS-Associated Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs727503284
rs727503284 		1.000 0.160 22 36289096 missense variant C/A snv
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
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