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: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology 		0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C4022866
Disease: Abnormal platelet shape
Abnormal platelet shape 		0.700 0
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: 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: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs80338829
rs80338829 		0.851 0.200 22 36295069 missense variant G/A snv
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2001 2001
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: rs2294358
rs2294358 		22 36375211 intron variant G/C snv 4.1E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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