DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
Disease: OPTIC ATROPHY 5 (disorder) ×
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: rs1555119216
rs1555119216 		1.000 0.120 12 32713327 missense variant C/A snv
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1555229948
rs1555229948 		1.000 0.120 12 32679368 missense variant A/C snv
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 1 2017 2017
dbSNP: rs863223953
rs863223953 		0.776 0.240 12 32731362 missense variant C/T snv
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1565548029
rs1565548029 		0.925 0.120 12 32742666 missense variant A/G snv
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0