MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
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: rs28940296
rs28940296 		0.925 0.080 1 11992584 missense variant G/A;T snv 3.6E-05
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2004 2011
dbSNP: rs387906990
rs387906990 		0.925 0.080 1 11998817 missense variant T/C snv 4.0E-06 4.2E-05
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2005 2011
dbSNP: rs387906990
rs387906990 		0.925 0.080 1 11998817 missense variant T/C snv 4.0E-06 4.2E-05
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 2008 2016
dbSNP: rs879253777
rs879253777 		0.925 0.080 1 11999009 missense variant G/A;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 5 2005 2016
dbSNP: rs119103268
rs119103268 		0.827 0.080 1 11992689 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 4 2008 2014
dbSNP: rs1557525153
rs1557525153 		1.000 0.080 1 11999031 missense variant C/G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2004 2013
dbSNP: rs28940291
rs28940291 		0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2006 2015
dbSNP: rs1553144086
rs1553144086 		1.000 0.080 1 12002104 splice donor variant G/A snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2006 2016
dbSNP: rs1557522794
rs1557522794 		1.000 0.080 1 11997295 splice acceptor variant A/G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2006 2016
dbSNP: rs28940291
rs28940291 		0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06
CUI: C2079538
Disease: Charcot-Marie-Tooth disease, Type 2A
Charcot-Marie-Tooth disease, Type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2007 2011
dbSNP: rs879253777
rs879253777 		0.925 0.080 1 11999009 missense variant G/A;T snv
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2005 2016
dbSNP: rs119103265
rs119103265 		0.827 0.120 1 12002033 missense variant C/T snv
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.820 1.000 2 2006 2011
dbSNP: rs119103265
rs119103265 		0.827 0.120 1 12002033 missense variant C/T snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.020 1.000 2 2006 2011
dbSNP: rs119103267
rs119103267 		0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04
CUI: C0023804
Disease: Lipomatosis, Multiple Symmetrical
Lipomatosis, Multiple Symmetrical 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2015 2019
dbSNP: rs1553143890
rs1553143890 		1.000 0.080 1 12001555 splice donor variant G/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2006 2016
dbSNP: rs28940291
rs28940291 		0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2010 2019
dbSNP: rs28940294
rs28940294 		0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2004 2006
dbSNP: rs773159585
rs773159585 		0.882 0.080 1 11998877 missense variant C/T snv 8.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2005 2014
dbSNP: rs794729198
rs794729198 		1.000 0.080 1 11999025 missense variant C/T snv
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2011 2016
dbSNP: rs1042842
rs1042842 		1 12011623 3 prime UTR variant A/G snv 0.71
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1060501915
rs1060501915 		1.000 0.080 1 11998842 frameshift variant TGGTGGC/- delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1060501920
rs1060501920 		1.000 0.040 1 11992662 missense variant A/G snv
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs119103265
rs119103265 		0.827 0.120 1 12002033 missense variant C/T snv
CUI: C2079538
Disease: Charcot-Marie-Tooth disease, Type 2A
Charcot-Marie-Tooth disease, Type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2011 2011