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: 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: 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
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
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
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
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
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
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
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
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
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: rs113084827
rs113084827
19 10807681 intron variant G/A;T snv
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs113084827
rs113084827
19 10807681 intron variant G/A;T snv
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019
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