DNM2, dynamin 2, 1785

N. diseases: 155; N. variants: 19
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: rs121909091
rs121909091
0.923 0.107 19 10798543 missense variant C/T snp
Myopathy, Centronuclear, Autosomal Dominant
Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 7 2006 2017
dbSNP: rs121909092
rs121909092
0.923 0.107 19 10793829 missense variant G/A snp
Myopathy, Centronuclear, Autosomal Dominant
Musculoskeletal Diseases; Nervous System Diseases 0.800 4 2006 2014
dbSNP: rs121909093
rs121909093
0.878 0.071 19 10812315 missense variant G/A,T snp
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 2 2007 2017
dbSNP: rs267606772
rs267606772
0.878 0.071 19 10793799 missense variant G/A snp
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 2 2008 2015
dbSNP: rs121909089
rs121909089
1.000 0.071 19 10793833 missense variant G/A,T snp
Myopathy, Centronuclear, Autosomal Dominant
Musculoskeletal Diseases; Nervous System Diseases 0.800 1 2006 2006
dbSNP: rs121909090
rs121909090
0.878 0.107 19 10793832 missense variant C/T snp 3.2E-05
Myopathy, Centronuclear, Autosomal Dominant
Musculoskeletal Diseases; Nervous System Diseases 0.800 1 2006 2006
dbSNP: rs397514735
rs397514735
0.923 0.071 19 10795378 missense variant T/G snp
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
0.800 1 2013 2013
dbSNP: rs121909092
rs121909092
0.923 0.107 19 10793829 missense variant G/A snp
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 19 2006 2017
dbSNP: rs587783595
rs587783595
0.923 0.107 19 10812271 missense variant G/A,T snp
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 9 2010 2017
dbSNP: rs121909090
rs121909090
0.878 0.107 19 10793832 missense variant C/T snp 3.2E-05
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 8 2006 2017
dbSNP: rs121909091
rs121909091
0.923 0.107 19 10798543 missense variant C/T snp
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 7 2006 2017
dbSNP: rs121909088
rs121909088
0.878 0.071 19 10819992 missense variant A/G snp
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 2 2005 2009
dbSNP: rs121909088
rs121909088
0.878 0.071 19 10819992 missense variant A/G snp
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 2 2005 2009
dbSNP: rs121909095
rs121909095
0.878 0.107 19 10823862 stop gained C/G,T snp
Myopathy, Centronuclear, Autosomal Dominant
Musculoskeletal Diseases; Nervous System Diseases 0.700 2 2008 2010
dbSNP: rs11671653
rs11671653
1.000 0.036 19 10727810 intron variant G/A,T snp 8.0E-02
Low density lipoprotein cholesterol measurement
0.700 1 2011 2011
dbSNP: rs11671653
rs11671653
1.000 0.036 19 10727810 intron variant G/A,T snp 8.0E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.700 1 2011 2011
dbSNP: rs121909092
rs121909092
0.923 0.107 19 10793829 missense variant G/A snp
CUI: C0026848
Disease: Myopathy
Myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 1 2015 2015
dbSNP: rs121909093
rs121909093
0.878 0.071 19 10812315 missense variant G/A,T snp
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
0.700 1 2015 2015
dbSNP: rs121909093
rs121909093
0.878 0.071 19 10812315 missense variant G/A,T snp
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1 2007 2007
dbSNP: rs121909094
rs121909094
0.923 0.071 19 10820017 missense variant T/A snp
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1 2007 2007
dbSNP: rs121909094
rs121909094
0.923 0.071 19 10820017 missense variant T/A snp
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1 2007 2007
dbSNP: rs121909095
rs121909095
0.878 0.107 19 10823862 stop gained C/G,T snp
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 1 2008 2008
dbSNP: rs121909095
rs121909095
0.878 0.107 19 10823862 stop gained C/G,T snp
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1 2017 2017
dbSNP: rs12459943
rs12459943
19 10748832 intron variant G/A snp 5.2E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1 2015 2015
dbSNP: rs199927590
rs199927590
1.000 0.071 19 10797424 missense variant A/G snp 1.1E-04 2.2E-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 2015 2015