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: rs1553145402
rs1553145402 		1.000 0.080 1 12006658 frameshift variant -/G delins
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 0
dbSNP: rs1064793170
rs1064793170 		1.000 0.080 1 12002025 missense variant A/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 0
dbSNP: rs1553142428
rs1553142428 		1.000 0.080 1 11996157 missense 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 8 2004 2014
dbSNP: rs863224970
rs863224970 		1.000 0.080 1 11997316 missense 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 8 2005 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: 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: 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: rs2236055
rs2236055 		1.000 0.040 1 11982204 intron variant A/G snv 0.57
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2236057
rs2236057 		0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2236057
rs2236057 		0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs776404901
rs776404901 		1.000 0.040 1 11996236 missense variant A/G snv 4.0E-06
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs119103264
rs119103264 		1.000 0.080 1 12001411 missense variant A/G 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 0.800 0
dbSNP: rs863224967
rs863224967 		1.000 0.080 1 12002069 missense variant A/G;T 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 9 2006 2017
dbSNP: rs1478175861
rs1478175861 		1.000 0.080 1 11989274 inframe deletion AGA/- delins 7.0E-06
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 0.700 0
dbSNP: rs2236058
rs2236058 		1.000 0.040 1 12002304 intron variant C/A;G snv 0.57
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2236058
rs2236058 		1.000 0.040 1 12002304 intron variant C/A;G snv 0.57
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs864622480
rs864622480 		0.925 0.080 1 11998999 missense variant C/A;G 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 0.700 0
dbSNP: rs864622480
rs864622480 		0.925 0.080 1 11998999 missense variant C/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 0
dbSNP: rs863224968
rs863224968 		1.000 0.080 1 12011547 stop gained C/A;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 0
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: rs873457
rs873457 		1.000 0.040 1 11986277 intron variant C/G snv 0.62
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs119103262
rs119103262 		1.000 0.080 1 11997315 missense variant C/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 6 2006 2016
dbSNP: rs387906991
rs387906991 		1.000 0.080 1 12002028 missense variant C/G;T snv 3.2E-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 6 2006 2016
dbSNP: rs28940295
rs28940295 		1.000 0.080 1 11999030 missense variant C/G;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 5 2004 2011
dbSNP: rs3766741
rs3766741 		1.000 0.040 1 12011376 intron variant C/G;T snv
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2016 2016