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: rs3752462
rs3752462 		0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3752462
rs3752462 		0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3752462
rs3752462 		0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4821480
rs4821480 		0.807 0.160 22 36299201 intron variant G/T snv 0.78
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4821480
rs4821480 		0.807 0.160 22 36299201 intron variant G/T snv 0.78
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4821480
rs4821480 		0.807 0.160 22 36299201 intron variant G/T snv 0.78
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: rs4821480
rs4821480 		0.807 0.160 22 36299201 intron variant G/T snv 0.78
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4821480
rs4821480 		0.807 0.160 22 36299201 intron variant G/T snv 0.78
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4821480
rs4821480 		0.807 0.160 22 36299201 intron variant G/T snv 0.78
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: rs4821481
rs4821481 		1.000 0.080 22 36299896 intron variant C/T snv 0.78
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5756152
rs5756152 		1.000 0.040 22 36316427 intron variant A/G snv 0.90
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5756152
rs5756152 		1.000 0.040 22 36316427 intron variant A/G snv 0.90
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
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: 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
dbSNP: rs80338826
rs80338826 		0.827 0.320 22 36305985 missense variant G/A 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 0.010 1.000 1 2002 2002
dbSNP: rs80338827
rs80338827 		0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06
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: rs80338827
rs80338827 		0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein 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 0.010 1.000 1 2002 2002
dbSNP: rs80338828
rs80338828 		0.851 0.200 22 36305975 missense variant C/T snv
CUI: C1861512
Disease: Cochleosaccular degeneration of the inner ear and progressive cataracts
Cochleosaccular degeneration of the inner ear and progressive cataracts 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2000 2000
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: rs80338828
rs80338828 		0.851 0.200 22 36305975 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 0.010 1.000 1 2015 2015
dbSNP: rs80338828
rs80338828 		0.851 0.200 22 36305975 missense variant C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs80338829
rs80338829 		0.851 0.200 22 36295069 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
dbSNP: rs80338829
rs80338829 		0.851 0.200 22 36295069 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2001 2001