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: rs267606772
rs267606772 		0.925 0.080 19 10793799 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 0.800 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
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: rs121909089
rs121909089 		0.882 0.120 19 10793833 missense variant G/A;T snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2016 2016
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
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs12459943
rs12459943 		19 10748832 intron variant G/A snv 4.3E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2015 2015
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: rs1555715869
rs1555715869 		0.925 0.120 19 10823859 missense variant C/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 1 2010 2010
dbSNP: rs1610095
rs1610095 		19 10794013 intron variant G/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1610095
rs1610095 		19 10794013 intron variant G/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
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: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		0.800 1.000 1 2013 2013
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: rs587783595
rs587783595 		0.882 0.120 19 10812271 missense variant G/A;T snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2016 2016
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: rs77581414
rs77581414 		1.000 0.080 19 10823418 non coding transcript exon variant T/A;C snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2020 2020
dbSNP: rs121909092
rs121909092 		0.882 0.120 19 10793829 missense variant G/A snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121909092
rs121909092 		0.882 0.120 19 10793829 missense variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0