OVOL2, ovo like zinc finger 2, 58495

N. diseases: 58; N. variants: 9
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: rs1555789140
rs1555789140 		0.882 0.120 20 17970217 frameshift variant C/- delins
CUI: C3554462
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
MITOCHONDRIAL DNA DEPLETION SYNDROME 11 		0.700 1.000 1 2017 2017
dbSNP: rs1555789140
rs1555789140 		0.882 0.120 20 17970217 frameshift variant C/- delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 1 2017 2017
dbSNP: rs1555789140
rs1555789140 		0.882 0.120 20 17970217 frameshift variant C/- delins
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555789140
rs1555789140 		0.882 0.120 20 17970217 frameshift variant C/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2017 2017
dbSNP: rs17802375
rs17802375 		20 17958239 intron variant G/A snv 9.9E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs55776024
rs55776024 		20 17983217 intron variant T/C snv 9.4E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs587776943
rs587776943 		1.000 20 17970315 stop gained G/A snv 4.0E-06
CUI: C3554462
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
MITOCHONDRIAL DNA DEPLETION SYNDROME 11 		0.700 0
dbSNP: rs587776944
rs587776944 		1.000 20 17975870 missense variant A/G snv 4.0E-05
CUI: C3554462
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
MITOCHONDRIAL DNA DEPLETION SYNDROME 11 		0.700 0
dbSNP: rs869320627
rs869320627 		1.000 0.080 20 18057973 intron variant -/GGTTCCGGCGGCCGGGGCTGCC delins
CUI: C1852555
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs869320628
rs869320628 		1.000 0.080 20 18058004 intron variant A/G snv
CUI: C1852555
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs869320629
rs869320629 		1.000 0.080 20 18057941 intron variant A/G snv
CUI: C1852555
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs869320630
rs869320630 		1.000 0.080 20 18057908 5 prime UTR variant A/C snv
CUI: C1852555
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0