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: 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: rs121909091
rs121909091 		0.851 0.120 19 10798543 missense variant C/T snv
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
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: 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: 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: rs74723057
rs74723057 		1.000 0.080 19 10818611 intron variant G/C snv 6.0E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
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
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: 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: 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
dbSNP: rs113084827
rs113084827 		19 10807681 intron variant G/A;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs113084827
rs113084827 		19 10807681 intron variant G/A;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
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
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
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