MFF, mitochondrial fission factor, 56947

N. diseases: 44; N. variants: 7
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: rs10177414
rs10177414 		1.000 0.040 2 227346754 non coding transcript exon variant T/C snv 0.33
CUI: C0004106
Disease: Astigmatism
Astigmatism 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6754433
rs6754433 		2 227334057 intron variant A/G snv 0.32
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs1285225437
rs1285225437 		1.000 2 227332521 frameshift variant C/- del 7.0E-06
CUI: C4310726
Disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 		0.700 0
dbSNP: rs397514615
rs397514615 		0.882 0.120 2 227330777 stop gained C/T snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397514615
rs397514615 		0.882 0.120 2 227330777 stop gained C/T snv
CUI: C4310726
Disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 		0.700 0
dbSNP: rs397514615
rs397514615 		0.882 0.120 2 227330777 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs753829320
rs753829320 		1.000 2 227355756 stop gained C/T snv
CUI: C4310726
Disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 		0.700 0
dbSNP: rs879255690
rs879255690 		1.000 2 227340312 frameshift variant AA/- delins
CUI: C4310726
Disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 		0.700 0
dbSNP: rs886037862
rs886037862 		1.000 2 227330769 frameshift variant -/C delins
CUI: C4310726
Disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 		0.700 0
dbSNP: rs753829320
rs753829320 		1.000 2 227355756 stop gained C/T snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018