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: 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: 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: rs136211
rs136211 		22 36362502 intron variant A/G snv 0.62
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs2157257
rs2157257 		1.000 0.160 22 36312293 intron variant A/G snv 0.52
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune 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: 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: rs776420285
rs776420285 		22 36336957 intron variant A/G snv 4.4E-04
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2018 2018
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: 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: 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
dbSNP: rs11089788
rs11089788 		0.851 0.120 22 36355056 intron variant C/A snv 0.46
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11089788
rs11089788 		0.851 0.120 22 36355056 intron variant C/A snv 0.46
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: rs11089788
rs11089788 		0.851 0.120 22 36355056 intron variant C/A snv 0.46
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: 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: rs80338830
rs80338830 		0.925 0.160 22 36295068 missense variant C/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: rs80338830
rs80338830 		0.925 0.160 22 36295068 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 2002 2002
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: 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: rs80338831
rs80338831 		0.882 0.320 22 36292060 missense variant C/A;G;T snv
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2003 2003
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: 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: 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