PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Bilateral microphthalmos ×
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: rs1131692286
rs1131692286 		0.882 0.080 11 31802767 frameshift variant C/- delins
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1131692293
rs1131692293 		0.925 0.080 11 31801767 missense variant C/T snv
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2020 2020
dbSNP: rs397514640
rs397514640 		0.882 0.160 11 31802733 missense variant G/A snv
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2020 2020