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: rs121907921
rs121907921 		0.925 11 31801893 missense variant A/T snv
CUI: C4017657
Disease: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES
FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES 		0.700 0
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		0.700 0
dbSNP: rs121907925
rs121907925 		0.882 0.080 11 31793795 missense variant A/G snv
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.700 0
dbSNP: rs1329112134
rs1329112134 		0.925 0.080 11 31802725 stop gained G/A;T snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs1554982299
rs1554982299 		0.925 0.080 11 31789982 frameshift variant ACTTGAA/- delins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs1554983577
rs1554983577 		0.925 0.080 11 31794775 frameshift variant -/G ins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs1554985024
rs1554985024 		0.925 0.080 11 31800744 frameshift variant C/- delins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs1554985282
rs1554985282 		0.925 0.080 11 31801557 missense variant T/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs1554985320
rs1554985320 		0.925 0.240 11 31801619 stop gained C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1554985716
rs1554985716 		0.925 0.080 11 31802706 stop gained G/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs1554986754
rs1554986754 		0.925 0.080 11 31806409 start lost C/A;T snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs1565245598
rs1565245598 		0.925 0.080 11 31802730 frameshift variant -/C delins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs1565245835
rs1565245835 		0.925 0.080 11 31802739 frameshift variant CGCTG/GGTT delins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs587776572
rs587776572 		1.000 11 31806397 splice region variant C/G snv
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		0.700 0
dbSNP: rs587778874
rs587778874 		1.000 11 31801766 missense variant C/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs886041222
rs886041222 		0.776 0.280 11 31793787 stop gained G/A snv
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		0.700 0
dbSNP: rs886042838
rs886042838 		0.925 0.080 11 31800856 splice acceptor variant C/- delins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs3026401
rs3026401 		1.000 0.040 11 31785976 3 prime UTR variant C/T snv 0.71
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs121907919
rs121907919 		0.925 0.080 11 31800837 missense variant A/T snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 17 1993 2014
dbSNP: rs121907927
rs121907927 		1.000 0.080 11 31794072 missense variant C/G snv 4.0E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 17 1993 2014
dbSNP: rs121907928
rs121907928 		0.925 0.080 11 31801561 missense variant G/A;C;T snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 17 1993 2014
dbSNP: rs373661718
rs373661718 		1.000 0.080 11 31790836 missense variant A/C snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 17 1993 2014
dbSNP: rs749244084
rs749244084 		1.000 0.080 11 31794689 missense variant C/T snv 8.0E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 17 1993 2014
dbSNP: rs757259413
rs757259413 		0.925 0.080 11 31794690 missense variant G/A snv 4.0E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 17 1993 2014
dbSNP: rs121907917
rs121907917 		0.807 0.240 11 31794079 stop gained G/A snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 8 2009 2016