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: 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: 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: 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: C0271441
Disease: Chronic otitis media
Chronic otitis media 		Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2032487
rs2032487 		0.882 0.080 22 36299382 intron variant C/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 2012 2012
dbSNP: rs2032487
rs2032487 		0.882 0.080 22 36299382 intron variant C/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 2012 2012
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: 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: 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: rs3752462
rs3752462 		0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3752462
rs3752462 		0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3752462
rs3752462 		0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3752462
rs3752462 		0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53
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 2012 2012