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: 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: 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: 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: 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: rs1610095
rs1610095
19 10794013 intron variant G/A;C snv
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: 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: 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
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: 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: 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: 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: 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: 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
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