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: 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
dbSNP: rs80338826
rs80338826 		0.827 0.320 22 36305985 missense variant G/A snv
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.810 1.000 11 2000 2006
dbSNP: rs80338829
rs80338829 		0.851 0.200 22 36295069 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: rs80338830
rs80338830 		0.925 0.160 22 36295068 missense variant C/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: 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
dbSNP: rs80338831
rs80338831 		0.882 0.320 22 36292060 missense variant C/A;G;T snv
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2003 2003
dbSNP: rs80338831
rs80338831 		0.882 0.320 22 36292060 missense variant C/A;G;T snv
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.720 1.000 2 2002 2003
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: 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: rs121913657
rs121913657 		0.882 0.160 22 36348950 missense variant G/A snv
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
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: rs2413396
rs2413396 		0.925 0.080 22 36312039 intron variant C/G;T snv 0.88
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2413396
rs2413396 		0.925 0.080 22 36312039 intron variant C/G;T snv 0.88
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs5750250
rs5750250 		1.000 0.120 22 36312438 intron variant G/A;T snv
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
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: 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: rs80338826
rs80338826 		0.827 0.320 22 36305985 missense variant G/A snv
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs80338826
rs80338826 		0.827 0.320 22 36305985 missense variant G/A snv
CUI: C0848765
Disease: Hearing disability
Hearing disability 		0.010 1.000 1 2013 2013
dbSNP: rs80338826
rs80338826 		0.827 0.320 22 36305985 missense variant G/A 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