FTL, ferritin light chain, 2512

N. diseases: 135; N. variants: 16
Disease: Neuroferritinopathy ×
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: rs104894685
rs104894685 		0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 1 2005 2005
dbSNP: rs398124637
rs398124637 		0.925 0.120 19 48965344 5 prime UTR variant C/A;T snv
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 1990 2013
dbSNP: rs1114167274
rs1114167274 		1.000 0.080 19 48966701 frameshift variant -/CT delins
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398124640
rs398124640 		1.000 0.080 19 48966675 frameshift variant -/GGCCCGGAGGCTGGGC delins
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587776840
rs587776840 		1.000 0.080 19 48966664 frameshift variant -/A delins
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0