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: rs1277774683
rs1277774683
19 10830162 missense variant A/C snv 4.0E-06 2.1E-05
CUI: C0030193
Disease: Pain
Pain
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs587783596
rs587783596
1.000 0.080 19 10812273 missense variant A/C;G snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 2005 2012
dbSNP: rs121909088
rs121909088
0.925 0.080 19 10819992 missense variant A/G snv
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2005 2009
dbSNP: rs121909088
rs121909088
0.925 0.080 19 10819992 missense variant A/G snv
CUI: C0442874
Disease: Neuropathy
Neuropathy
Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121909088
rs121909088
0.925 0.080 19 10819992 missense variant A/G 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: 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: rs1555715869
rs1555715869
0.925 0.120 19 10823859 missense variant C/A snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 2005 2012
dbSNP: rs1555715869
rs1555715869
0.925 0.120 19 10823859 missense variant C/A snv
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs746903992
rs746903992
1.000 0.080 19 10802328 missense variant C/A;G;T snv 8.0E-06; 1.2E-05
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587783598
rs587783598
0.925 0.080 19 10823886 missense variant C/G snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 2005 2012
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: rs587783598
rs587783598
0.925 0.080 19 10823886 missense variant C/G snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121909095
rs121909095
0.882 0.120 19 10823862 missense variant C/G;T snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 10 2005 2012
dbSNP: rs121909095
rs121909095
0.882 0.120 19 10823862 missense variant C/G;T snv
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 2007 2015
dbSNP: rs121909095
rs121909095
0.882 0.120 19 10823862 missense variant C/G;T snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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
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: rs121909091
rs121909091
0.851 0.120 19 10798543 missense variant C/T snv
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 2005 2016
dbSNP: rs121909091
rs121909091
0.851 0.120 19 10798543 missense variant C/T snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 2 2016 2018
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: rs121909091
rs121909091
0.851 0.120 19 10798543 missense variant C/T snv
Myopathy, Centronuclear, Autosomal Dominant
Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs757334523
rs757334523
1.000 0.160 19 10829132 missense variant C/T snv
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
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