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: 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: rs80338828
rs80338828
0.851 0.200 22 36305975 missense variant C/T 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 0.810 1.000 1 2000 2000
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: 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: 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: 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: 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: rs121913657
rs121913657
0.882 0.160 22 36348950 missense variant G/A snv
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 1 2002 2002
dbSNP: rs80338826
rs80338826
0.827 0.320 22 36305985 missense variant G/A snv
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 1 2011 2011
dbSNP: rs80338829
rs80338829
0.851 0.200 22 36295069 missense variant G/A snv
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 1 2007 2007
dbSNP: rs80338834
rs80338834
0.925 0.160 22 36284474 missense variant C/T snv
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 1 2002 2002
dbSNP: rs80338835
rs80338835
0.925 0.200 22 36282754 stop gained G/A snv 4.0E-06 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 1 2014 2014
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: 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: rs136211
rs136211
22 36362502 intron variant A/G snv 0.62
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 2 2016 2019
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