DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
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: rs121908531
rs121908531 		0.851 0.080 12 32731118 missense variant C/A;G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs141185042
rs141185042 		12 32707409 missense variant A/T snv 4.1E-06 7.0E-06
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs750745310
rs750745310 		0.882 0.040 12 32743390 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs750745310
rs750745310 		0.882 0.040 12 32743390 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2016 2016
dbSNP: rs750745310
rs750745310 		0.882 0.040 12 32743390 missense variant C/T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs879255689
rs879255689 		12 32722602 missense variant G/A snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs952149887
rs952149887 		1.000 0.040 12 32701547 missense variant A/G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2017 2017