CEP63, centrosomal protein 63, 80254

N. diseases: 44; 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: rs1266747910
rs1266747910 		1.000 3 134537160 frameshift variant C/- delins 1.6E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 15 2004 2015
dbSNP: rs763001827
rs763001827 		1.000 3 134495351 stop gained C/T snv 2.8E-05 7.0E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 15 2004 2015
dbSNP: rs1085307110
rs1085307110 		0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1085307110
rs1085307110 		0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1085307110
rs1085307110 		0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs10935120
rs10935120 		3 134514250 intron variant A/G snv 0.63
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2008 2008
dbSNP: rs10935120
rs10935120 		3 134514250 intron variant A/G snv 0.63
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2008 2008
dbSNP: rs6772896
rs6772896 		3 134484505 intron variant C/T snv 0.68
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs6772896
rs6772896 		3 134484505 intron variant C/T snv 0.68
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs6772896
rs6772896 		3 134484505 intron variant C/T snv 0.68
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs6775611
rs6775611 		3 134640105 intron variant C/T snv 0.33
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs746387482
rs746387482 		1.000 3 134507245 stop gained -/TTAA delins 8.0E-06
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.700 1.000 1 2011 2011
dbSNP: rs775009958
rs775009958 		3 134710087 intron variant C/T snv 2.9E-04
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2017 2017
dbSNP: rs9851441
rs9851441 		3 134596249 upstream gene variant C/A snv 0.64
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1164567042
rs1164567042 		1.000 3 134507193 stop gained G/A;T snv 4.0E-06 1.4E-05
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.700 0
dbSNP: rs377332009
rs377332009 		1.000 3 134625131 stop gained G/A;T snv 1.4E-05
CUI: C4310711
Disease: MYOPATHY, MYOFIBRILLAR, 7
MYOPATHY, MYOFIBRILLAR, 7 		0.700 0
dbSNP: rs752207334
rs752207334 		1.000 3 134549061 splice acceptor variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.700 0
dbSNP: rs886037917
rs886037917 		1.000 3 134608668 frameshift variant C/- del
CUI: C4310711
Disease: MYOPATHY, MYOFIBRILLAR, 7
MYOPATHY, MYOFIBRILLAR, 7 		0.700 0
dbSNP: rs140717774
rs140717774 		1.000 0.120 3 134545716 missense variant G/A;T snv 6.0E-05; 3.2E-05
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs796503097
rs796503097 		1.000 0.120 3 134545716 missense variant GC/TT mnv
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015