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: rs188428283
rs188428283 		19 10817504 intron variant G/A snv 2.1E-03 2.4E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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: rs746903992
rs746903992 		1.000 0.080 19 10802328 missense variant C/A;G;T snv 8.0E-06; 1.2E-05
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: rs121909092
rs121909092 		0.882 0.120 19 10793829 missense variant G/A snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
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: 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: rs587783595
rs587783595 		0.882 0.120 19 10812271 missense variant G/A;T snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 11 2005 2012
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: 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: 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: 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: 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: 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: rs587783597
rs587783597 		0.925 0.080 19 10823868 missense variant T/C snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 2005 2012
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: rs879254086
rs879254086 		1.000 0.080 19 10819986 missense variant G/A snv
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 2005 2012
dbSNP: rs121909090
rs121909090 		0.882 0.120 19 10793832 missense variant C/T snv 7.0E-06
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
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: rs121909095
rs121909095 		0.882 0.120 19 10823862 missense variant C/G;T snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
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: rs587783595
rs587783595 		0.882 0.120 19 10812271 missense variant G/A;T snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 2010 2016
dbSNP: rs121909089
rs121909089 		0.882 0.120 19 10793833 missense variant G/A;T snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
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: rs121909091
rs121909091 		0.851 0.120 19 10798543 missense variant C/T snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
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: rs121909088
rs121909088 		0.925 0.080 19 10819992 missense variant A/G snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
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: 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: rs121909093
rs121909093 		0.925 0.080 19 10812315 missense variant G/A;T snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
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: rs121909094
rs121909094 		1.000 0.080 19 10820017 missense variant T/A snv
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2007 2008