PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Myopia ×
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: 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: 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: 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