PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: ANTERIOR SEGMENT DYSGENESIS 5 ×
Source: CURATED ×
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: rs121907917
rs121907917 		0.807 0.240 11 31794079 stop gained G/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 8 2009 2016
dbSNP: rs1057517785
rs1057517785 		0.925 0.080 11 31793521 stop gained G/A;C snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 5 1994 2016
dbSNP: rs1131692284
rs1131692284 		0.925 0.080 11 31806411 start lost T/C;G snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 5 1999 2017
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 5 2001 2018
dbSNP: rs886041222
rs886041222 		0.776 0.280 11 31793787 stop gained G/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 5 1999 2017
dbSNP: rs886044289
rs886044289 		0.925 0.080 11 31802793 missense variant C/G snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 4 1998 2010
dbSNP: rs121907913
rs121907913 		0.827 0.080 11 31802769 missense variant G/C snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 3 1994 2003
dbSNP: rs398123295
rs398123295 		0.925 0.080 11 31801560 splice donor variant C/T snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 3 1993 2016
dbSNP: rs1131692304
rs1131692304 		0.925 0.080 11 31800811 stop gained G/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 2 1998 2017
dbSNP: rs1554984996
rs1554984996 		0.925 0.080 11 31800719 frameshift variant C/- delins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 2 2005 2014
dbSNP: rs1554985305
rs1554985305 		0.925 0.080 11 31801593 stop gained C/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 2 2008 2016
dbSNP: rs1131692286
rs1131692286 		0.882 0.080 11 31802767 frameshift variant C/- delins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 1 2017 2017
dbSNP: rs1131692308
rs1131692308 		0.925 0.080 11 31800703 stop gained G/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 1 2017 2017
dbSNP: rs1554982609
rs1554982609 		0.925 0.080 11 31790828 frameshift variant -/GAGTA delins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 1 2000 2000
dbSNP: rs121907916
rs121907916 		0.882 0.080 11 31794705 stop gained G/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		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: 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: 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