DNM1, dynamin 1, 1759

N. diseases: 114; N. variants: 19
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: rs587777860
rs587777860 		1.000 9 128219192 missense variant G/A;C snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.800 1.000 3 2014 2016
dbSNP: rs587777861
rs587777861 		1.000 9 128220016 missense variant G/C snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.800 1.000 3 2014 2016
dbSNP: rs587777862
rs587777862 		1.000 9 128222544 missense variant G/C snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.800 1.000 3 2014 2016
dbSNP: rs760270633
rs760270633 		0.925 0.040 9 128220201 missense variant C/T snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.800 1.000 3 2014 2016
dbSNP: rs1554767313
rs1554767313 		9 128203597 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 38 1983 2017
dbSNP: rs1554767317
rs1554767317 		1.000 9 128203604 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 38 1983 2017
dbSNP: rs1554767317
rs1554767317 		1.000 9 128203604 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 38 1983 2017
dbSNP: rs1554773487
rs1554773487 		1.000 9 128220205 missense variant G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 38 1983 2017
dbSNP: rs1554774587
rs1554774587 		1.000 9 128222543 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 38 1983 2017
dbSNP: rs1554774587
rs1554774587 		1.000 9 128222543 missense variant G/A snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 1.000 2 2014 2017
dbSNP: rs1554772959
rs1554772959 		1.000 9 128219106 missense variant A/G snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 1.000 1 2016 2016
dbSNP: rs2267958
rs2267958 		9 128253000 non coding transcript exon variant G/A snv 0.38
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs2267958
rs2267958 		9 128253000 non coding transcript exon variant G/A snv 0.38
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3003612
rs3003612 		9 128226337 intron variant C/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1057518655
rs1057518655 		1.000 9 128219127 protein altering variant -/GAT delins
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs1554772945
rs1554772945 		1.000 9 128219105 missense variant C/A snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs1554774401
rs1554774401 		1.000 9 128222212 missense variant A/T snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs1554774575
rs1554774575 		1.000 9 128222504 missense variant G/A snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs1554781553
rs1554781553 		1.000 9 128242289 missense variant A/G snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs1564332930
rs1564332930 		1.000 9 128222557 inframe insertion -/TTCCAC delins
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs869312702
rs869312702 		0.827 0.160 9 128203609 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs869312702
rs869312702 		0.827 0.160 9 128203609 missense variant G/A snv
CUI: C0241210
Disease: Speech Delay
Speech Delay 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs869312702
rs869312702 		0.827 0.160 9 128203609 missense variant G/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869312702
rs869312702 		0.827 0.160 9 128203609 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs869312702
rs869312702 		0.827 0.160 9 128203609 missense variant G/A snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		Mental Disorders 0.700 0