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: rs119103268
rs119103268 		0.827 0.080 1 11992689 missense variant C/T snv
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.010 1.000 1 2015 2015
dbSNP: rs2336384
rs2336384 		1.000 0.040 1 11986006 intron variant G/T snv 0.65
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
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: 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: 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: rs119103261
rs119103261 		0.882 0.080 1 12002014 missense variant G/C snv
CUI: C4310875
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C4310875
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A 		0.700 0
dbSNP: rs119103263
rs119103263 		0.827 0.240 1 11992659 missense variant C/T snv
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs28940293
rs28940293 		0.882 0.080 1 11992606 missense variant T/C;G snv 8.0E-06
CUI: C4310875
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A 		0.700 0
dbSNP: rs28940296
rs28940296 		0.925 0.080 1 11992584 missense variant G/A;T snv 3.6E-05
CUI: C4310875
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A 		0.700 0
dbSNP: rs773159585
rs773159585 		0.882 0.080 1 11998877 missense variant C/T snv 8.0E-06
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		0.700 0
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: 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: 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: rs145413511
rs145413511 		0.925 0.160 1 12007062 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4551508
Disease: Dominant hereditary optic atrophy
Dominant hereditary optic atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs879254011
rs879254011 		1.000 0.080 1 12002034 missense variant G/A;C 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 15 2006 2017