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: rs200901330
rs200901330 		22 36295650 missense variant A/G snv 3.2E-04 4.3E-04
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: rs554332083
rs554332083 		22 36300961 missense variant T/G snv 1.6E-04 2.8E-05
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: 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: rs76368635
rs76368635 		22 36292132 missense variant G/A snv 1.0E-03 1.2E-03
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: 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: rs80338827
rs80338827 		0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06
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: rs4821480
rs4821480 		0.807 0.160 22 36299201 intron variant G/T snv 0.78
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2011 2018
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: rs136211
rs136211 		22 36362502 intron variant A/G snv 0.62
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs2032487
rs2032487 		0.882 0.080 22 36299382 intron variant C/T snv 0.78
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2009 2012
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: rs80338827
rs80338827 		0.882 0.320 22 36305984 missense variant C/T snv 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 2 2002 2019
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: rs11089788
rs11089788 		0.851 0.120 22 36355056 intron variant C/A snv 0.46
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs11089788
rs11089788 		0.851 0.120 22 36355056 intron variant C/A snv 0.46
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		0.010 1.000 1 2013 2013