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: 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: 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