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: 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: 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: rs28940291
rs28940291 		0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.010 1.000 1 2019 2019
dbSNP: rs771845093
rs771845093 		0.925 0.160 1 12005903 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs771845093
rs771845093 		0.925 0.160 1 12005903 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs771845093
rs771845093 		0.925 0.160 1 12005903 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2019 2019
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: rs730123
rs730123 		1 12010235 intron variant G/A snv 0.55
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.700 1.000 1 2018 2018
dbSNP: rs119103267
rs119103267 		0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1474868
rs1474868 		1.000 0.040 1 11984107 intron variant C/T snv 0.53
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1557522849
rs1557522849 		0.925 0.080 1 11997319 missense variant C/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 1 2017 2017
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: rs4240897
rs4240897 		1.000 0.040 1 11982698 intron variant G/A snv 0.43
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.710 1.000 1 2017 2017
dbSNP: rs4846085
rs4846085 		1.000 0.040 1 11990577 intron variant T/C snv 0.65
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs762440627
rs762440627 		1.000 0.080 1 12001404 missense variant C/T snv 1.6E-05 7.0E-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 0.010 1.000 1 2017 2017
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: 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: 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: rs2336384
rs2336384 		1.000 0.040 1 11986006 intron variant G/T snv 0.65
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
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
dbSNP: rs747176196
rs747176196 		1.000 1 11989329 missense variant C/T snv 4.0E-06; 1.6E-05
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs747176196
rs747176196 		1.000 1 11989329 missense variant C/T snv 4.0E-06; 1.6E-05
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.010 1.000 1 2016 2016
dbSNP: rs747176196
rs747176196 		1.000 1 11989329 missense variant C/T snv 4.0E-06; 1.6E-05
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		0.010 1.000 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