Source: ALL
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
6 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: 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: rs1131692286
rs1131692286
PAX6
3 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: rs1554982609
rs1554982609
PAX6
2 0.925 0.080 11 31790828 frameshift variant -/GAGTA delins 0.700 1.000 1 2000 2000
dbSNP: rs1057517780
rs1057517780
PAX6
1 1.000 0.080 11 31802736 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1057517783
rs1057517783
PAX6
1 1.000 0.080 11 31793651 splice donor variant C/G snv 0.700 0
dbSNP: rs1131692282
rs1131692282
PAX6
1 1.000 0.080 11 31806927 splice acceptor variant T/- del 0.700 0
dbSNP: rs1131692285
rs1131692285
PAX6
1 1.000 0.080 11 31802826 missense variant C/G snv 0.700 0
dbSNP: rs1131692287
rs1131692287
PAX6
1 1.000 0.080 11 31802719 frameshift variant AA/G delins 0.700 0
dbSNP: rs1131692289
rs1131692289
PAX6
2 0.925 0.080 11 31802705 missense variant T/C snv 0.700 0
dbSNP: rs1131692290
rs1131692290
PAX6
1 1.000 0.080 11 31802700 splice region variant T/C snv 0.700 0
dbSNP: rs1131692291
rs1131692291
PAX6
1 1.000 0.080 11 31801790 non coding transcript exon variant G/C snv 0.700 0
dbSNP: rs1131692292
rs1131692292
PAX6
1 1.000 0.080 11 31801781 splice region variant A/C;G snv 0.700 0
dbSNP: rs1131692293
rs1131692293
PAX6
2 0.925 0.080 11 31801767 missense variant C/T snv 0.700 0
dbSNP: rs1131692294
rs1131692294
PAX6
1 1.000 0.080 11 31801754 missense variant T/G snv 0.700 0
dbSNP: rs1131692295
rs1131692295
PAX6
1 1.000 0.080 11 31801734 stop gained C/A snv 0.700 0