DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
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: rs11671653
rs11671653
1.000 0.040 19 10727810 intron variant G/A;T snv
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2011 2011
dbSNP: rs11671653
rs11671653
1.000 0.040 19 10727810 intron variant G/A;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs143928955
rs143928955
19 10732057 intron variant C/G snv 4.7E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12459943
rs12459943
19 10748832 intron variant G/A snv 4.3E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2015 2015
dbSNP: rs864309705
rs864309705
1.000 0.080 19 10793748 missense variant G/A snv
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267606772
rs267606772
0.925 0.080 19 10793799 missense variant G/A snv
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs267606772
rs267606772
0.925 0.080 19 10793799 missense variant G/A snv
CUI: C0442874
Disease: Neuropathy
Neuropathy
Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267606772
rs267606772
0.925 0.080 19 10793799 missense variant G/A snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121909092
rs121909092
0.882 0.120 19 10793829 missense variant G/A snv
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 18 2005 2015
dbSNP: rs121909092
rs121909092
0.882 0.120 19 10793829 missense variant G/A snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 10 2005 2012
dbSNP: rs121909092
rs121909092
0.882 0.120 19 10793829 missense variant G/A snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121909092
rs121909092
0.882 0.120 19 10793829 missense variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121909090
rs121909090
0.882 0.120 19 10793832 missense variant C/T snv 7.0E-06
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 10 2005 2012
dbSNP: rs121909090
rs121909090
0.882 0.120 19 10793832 missense variant C/T snv 7.0E-06
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 2005 2017
dbSNP: rs121909090
rs121909090
0.882 0.120 19 10793832 missense variant C/T snv 7.0E-06
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2014 2014
dbSNP: rs121909089
rs121909089
0.882 0.120 19 10793833 missense variant G/A;T snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 10 2005 2012
dbSNP: rs121909089
rs121909089
0.882 0.120 19 10793833 missense variant G/A;T snv
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 2005 2017
dbSNP: rs121909089
rs121909089
0.882 0.120 19 10793833 missense variant G/A;T snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs587783594
rs587783594
1.000 0.080 19 10793851 missense variant T/A snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1610095
rs1610095
19 10794013 intron variant G/A;C snv
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2018 2018
dbSNP: rs1610095
rs1610095
19 10794013 intron variant G/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2018 2018
dbSNP: rs397514735
rs397514735
0.925 0.080 19 10795378 missense variant T/G snv
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
0.800 1.000 1 2013 2013
dbSNP: rs397514735
rs397514735
0.925 0.080 19 10795378 missense variant T/G snv
CUI: C0085623
Disease: Akinesia
Akinesia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs199927590
rs199927590
1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs121909091
rs121909091
0.851 0.120 19 10798543 missense variant C/T snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 13 2005 2016