PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
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: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121907917
rs121907917 		0.807 0.240 11 31794079 stop gained G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1554985722
rs1554985722 		0.925 0.200 11 31802714 missense variant C/G snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs864309681
rs864309681 		0.925 0.200 11 31790816 frameshift variant G/- delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs864309686
rs864309686 		1.000 0.200 11 31801721 missense variant A/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121907926
rs121907926 		0.925 0.080 11 31790722 missense variant T/C snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2003 2003
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121907924
rs121907924 		1.000 0.080 11 31794699 stop gained G/A snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121907926
rs121907926 		0.925 0.080 11 31790722 missense variant T/C snv
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886041222
rs886041222 		0.776 0.280 11 31793787 stop gained G/A snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs644242
rs644242 		0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.030 1.000 3 2011 2018
dbSNP: rs662702
rs662702 		0.882 0.040 11 31787522 3 prime UTR variant C/T snv 0.15
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.030 1.000 3 2011 2019
dbSNP: rs644242
rs644242 		0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.020 1.000 2 2012 2014
dbSNP: rs1131692297
rs1131692297 		0.882 0.080 11 31801653 stop gained G/A snv
CUI: C4021566
Disease: Progressive cataract
Progressive cataract 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121907914
rs121907914 		0.882 0.080 11 31801611 stop gained G/A snv
CUI: C4021566
Disease: Progressive cataract
Progressive cataract 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12421026
rs12421026 		1.000 0.040 11 31787774 3 prime UTR variant C/G;T snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2071754
rs2071754 		1.000 0.040 11 31791034 non coding transcript exon variant C/G;T snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3026390
rs3026390 		1.000 0.040 11 31791961 non coding transcript exon variant T/A;C snv 0.44
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3026393
rs3026393 		0.925 0.040 11 31790667 intron variant A/C;G;T snv 0.48; 8.0E-06; 7.6E-05
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3026393
rs3026393 		0.925 0.040 11 31790667 intron variant A/C;G;T snv 0.48; 8.0E-06; 7.6E-05
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs644242
rs644242 		0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs662702
rs662702 		0.882 0.040 11 31787522 3 prime UTR variant C/T snv 0.15
CUI: C4315867
Disease: Moderate myopia
Moderate myopia 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs662702
rs662702 		0.882 0.040 11 31787522 3 prime UTR variant C/T snv 0.15
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs667773
rs667773 		1.000 0.040 11 31793814 non coding transcript exon variant G/A snv 8.5E-02 5.9E-02
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2008 2008