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: 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: 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: rs13053731
rs13053731 		22 36286661 intron variant G/A snv 5.7E-02
CUI: C1285654
Disease: Memory performance
Memory performance 		0.700 1.000 1 2017 2017
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: 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: 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: 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: 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: 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: rs1430793034
rs1430793034 		1.000 0.080 22 36285296 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		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: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		0.700 0
dbSNP: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C1096367
Disease: Increased mean platelet volume
Increased mean platelet volume 		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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
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: 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: 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: rs867593888
rs867593888 		0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 0
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: rs1430793034
rs1430793034 		1.000 0.080 22 36285296 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
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