Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121907917
rs121907917
PAX6
3 0.807 0.240 11 31794079 stop gained G/A snv 0.700 1.000 8 2009 2016
dbSNP: rs1057517785
rs1057517785
PAX6
2 0.925 0.080 11 31793521 stop gained G/A;C snv 0.700 1.000 5 1994 2016
dbSNP: rs1131692284
rs1131692284
PAX6
2 0.925 0.080 11 31806411 start lost T/C;G snv 0.700 1.000 5 1999 2017
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
12 0.742 0.320 11 31789935 stop gained T/A snv 0.700 1.000 5 2001 2018
dbSNP: rs886041222
rs886041222
PAX6
8 0.776 0.280 11 31793787 stop gained G/A snv 0.700 1.000 5 1999 2017
dbSNP: rs886044289
rs886044289
PAX6
2 0.925 0.080 11 31802793 missense variant C/G snv 0.700 1.000 4 1998 2010
dbSNP: rs121907913
rs121907913
PAX6
4 0.827 0.080 11 31802769 missense variant G/C snv 0.700 1.000 3 1994 2003
dbSNP: rs398123295
rs398123295
PAX6
2 0.925 0.080 11 31801560 splice donor variant C/T snv 0.700 1.000 3 1993 2016
dbSNP: rs1131692304
rs1131692304
PAX6
2 0.925 0.080 11 31800811 stop gained G/A snv 0.700 1.000 2 1998 2017
dbSNP: rs1554984996
rs1554984996
PAX6
2 0.925 0.080 11 31800719 frameshift variant C/- delins 0.700 1.000 2 2005 2014
dbSNP: rs1554985305
rs1554985305
PAX6
2 0.925 0.080 11 31801593 stop gained C/A snv 0.700 1.000 2 2008 2016
dbSNP: rs1064792896
rs1064792896
CYP1B1
2 0.925 0.040 2 38071279 frameshift variant CTGCCTGCACTCG/- del 0.700 1.000 1 1997 1997
dbSNP: rs1131692286
rs1131692286
PAX6
2 0.882 0.080 11 31802767 frameshift variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1131692308
rs1131692308
PAX6
2 0.925 0.080 11 31800703 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs147067171
rs147067171
PTCH1
2 0.925 0.080 9 95447309 missense variant T/C snv 5.5E-04 5.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs1554982609
rs1554982609
PAX6
2 0.925 0.080 11 31790828 frameshift variant -/GAGTA delins 0.700 1.000 1 2000 2000
dbSNP: rs765371196
rs765371196
PTCH1 ; LOC100507346
1 1.000 9 95461864 missense variant T/C snv 1.6E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs121907916
rs121907916
PAX6
3 0.882 0.080 11 31794705 stop gained G/A snv 0.700 0
dbSNP: rs1329112134
rs1329112134
PAX6
2 0.925 0.080 11 31802725 stop gained G/A;T snv 0.700 0
dbSNP: rs1554100953
rs1554100953
FOXC1
2 0.925 0.080 6 1610792 frameshift variant G/- delins 0.700 0
dbSNP: rs1554982299
rs1554982299
PAX6 ; ELP4
2 0.925 0.080 11 31789982 frameshift variant ACTTGAA/- delins 0.700 0
dbSNP: rs1554983577
rs1554983577
PAX6
2 0.925 0.080 11 31794775 frameshift variant -/G ins 0.700 0
dbSNP: rs1554985024
rs1554985024
PAX6
2 0.925 0.080 11 31800744 frameshift variant C/- delins 0.700 0
dbSNP: rs1554985282
rs1554985282
PAX6
2 0.925 0.080 11 31801557 missense variant T/A snv 0.700 0
dbSNP: rs1554985716
rs1554985716
PAX6
2 0.925 0.080 11 31802706 stop gained G/A snv 0.700 0