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: 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: rs121907918
rs121907918 		0.925 0.080 11 31800832 missense variant G/A;T snv
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		0.800 1.000 2 1996 1999
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: rs3026401
rs3026401 		1.000 0.040 11 31785976 3 prime UTR variant C/T snv 0.71
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs61879810
rs61879810 		11 31799919 intron variant A/C;G snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs61879810
rs61879810 		11 31799919 intron variant A/C;G snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs694617
rs694617 		11 31803970 5 prime UTR variant T/A;G snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs121907913
rs121907913 		0.827 0.080 11 31802769 missense variant G/C snv
CUI: C4310841
Disease: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE 		0.700 0
dbSNP: rs121907915
rs121907915 		0.925 0.080 11 31790835 stop gained G/C snv
CUI: C3805349
Disease: CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY 		0.700 0
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: rs121907919
rs121907919 		0.925 0.080 11 31800837 missense variant A/T snv
CUI: C4017066
Disease: ANIRIDIA, ATYPICAL
ANIRIDIA, ATYPICAL 		0.700 0
dbSNP: rs121907920
rs121907920 		0.925 0.080 11 31801727 missense variant C/A snv
CUI: C4017067
Disease: FOVEAL HYPOPLASIA 1 WITH CATARACT
FOVEAL HYPOPLASIA 1 WITH CATARACT 		0.700 0
dbSNP: rs121907921
rs121907921 		0.925 11 31801893 missense variant A/T snv
CUI: C4310884
Disease: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES 		0.700 0