Disease: Oculomelic amyoplasia ×
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: rs587777076
rs587777076 		1.000 0.200 18 10784872 missense variant T/A snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2013 2014
dbSNP: rs587777452
rs587777452 		0.925 0.240 18 10671633 missense variant C/A;G;T snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2013 2014
dbSNP: rs587777453
rs587777453 		1.000 0.200 18 10789114 missense variant T/A;C snv 7.0E-06
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2013 2014
dbSNP: rs587777454
rs587777454 		1.000 0.200 18 10671571 missense variant A/G snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2013 2014
dbSNP: rs1555621138
rs1555621138 		0.925 0.200 18 10671603 inframe deletion TCT/- delins
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777450
rs587777450 		0.790 0.320 18 10671729 missense variant C/T snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs878853135
rs878853135 		1.000 0.200 18 10671578 frameshift variant T/- del
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs878853137
rs878853137 		1.000 0.200 18 10689746 missense variant G/A snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs878853138
rs878853138 		1.000 0.200 18 10696257 missense variant G/A snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs878853139
rs878853139 		1.000 0.200 18 10696263 missense variant G/A snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs878853140
rs878853140 		1.000 0.200 18 10762977 missense variant A/G snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014