ORC1, origin recognition complex subunit 1, 4998

N. diseases: 103; N. variants: 8
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: rs143141689
rs143141689 		0.882 0.280 1 52397773 missense variant C/T snv 9.5E-05 1.6E-04
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2011 2015
dbSNP: rs201253919
rs201253919 		1.000 0.200 1 52383437 missense variant G/A snv 4.8E-05 9.8E-05
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2011 2011
dbSNP: rs387906826
rs387906826 		1.000 0.200 1 52397707 missense variant T/C snv 7.0E-06
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2011 2011
dbSNP: rs387906827
rs387906827 		1.000 0.200 1 52397821 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2011 2011
dbSNP: rs387906828
rs387906828 		1.000 0.200 1 52375574 missense variant C/T snv 4.8E-05 2.1E-05
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2011 2011
dbSNP: rs143141689
rs143141689 		0.882 0.280 1 52397773 missense variant C/T snv 9.5E-05 1.6E-04
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.710 1.000 5 2011 2015
dbSNP: rs1378348220
rs1378348220 		1.000 0.200 1 52385264 splice acceptor variant T/C snv
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1557573504
rs1557573504 		1.000 0.200 1 52383433 frameshift variant AC/T delins
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs143141689
rs143141689 		0.882 0.280 1 52397773 missense variant C/T snv 9.5E-05 1.6E-04
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs765136006
rs765136006 		1 52402180 missense variant G/A snv 2.0E-05
CUI: C0233558
Disease: Temper tantrum
Temper tantrum 		Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs765136006
rs765136006 		1 52402180 missense variant G/A snv 2.0E-05
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014