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: rs121907925
rs121907925
PAX6
3 0.882 0.080 11 31793795 missense variant A/G snv 0.800 1.000 1 2003 2003
dbSNP: rs793888540
rs793888540
TFAP2A ; TFAP2A-AS2
9 0.851 0.080 6 10404623 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs793888541
rs793888541
TFAP2A ; TFAP2A-AS2
7 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs886037754
rs886037754
PAX2
2 1.000 0.080 10 100749819 frameshift variant GC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs886037755
rs886037755
PAX2
2 1.000 0.080 10 100749889 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs886037756
rs886037756
PAX2
2 1.000 0.080 10 100749759 frameshift variant -/GTGAACC delins 0.700 1.000 1 2015 2015
dbSNP: rs886037757
rs886037757
PAX2
2 1.000 0.080 10 100750703 frameshift variant -/AC delins 0.700 1.000 1 2015 2015
dbSNP: rs886037758
rs886037758
KIF26B ; LOC105373265
2 1.000 0.080 1 245688126 frameshift variant ACCTCGCCCCCCAGCTCCGGGG/- delins 0.700 1.000 1 2015 2015
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
12 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
dbSNP: rs121907923
rs121907923
PAX6
1 1.000 0.080 11 31801716 missense variant G/A snv 0.700 0
dbSNP: rs190521996
rs190521996
PMM2
12 0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 0.700 0
dbSNP: rs80338701
rs80338701
PMM2
13 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
dbSNP: rs886041222
rs886041222
PAX6
8 0.776 0.280 11 31793787 stop gained G/A snv 0.700 0