Table 2.
Peak 1 | Peak 2 | Peak 3 | |
---|---|---|---|
dbSNP rsID | rs76960013 | rs59178556 | rs79476654 |
Gene info | EYS:intron | EYS:intron | EYS:intron |
Ref/Alt | A/G | C/A | T/C |
ToMMo AF | 0.0414 | 0.2161 | 0.0005 |
Odds ratio | 3.95 | 1.83 | 16.46 |
P-value | 1.18E−13 | 3.79E−10 | 2.45E−08 |
Linked variant | G843E | S2556C | S1653Kfs |
dbSNP rsID | rs74419361 | rs66462731 | rs527236065 |
ToMMo AF | 0.0171 | 0.214 | 0.0044 |
Odds ratio | 3.75 | 1.79 | NA† |
P-value | 1.06E−09 | 1.56E−09* | NA† |
Corrleation (r2) | 0.68 | 0.97 | 0.78 |
PolyPhen-2 | Damaging | Possibly damaging | No data |
SIFT | Damaging | Damaging/tolerated | Damaging |
MutationTaster | Disease causing | Polymorphism | Disease causing |
CADD score | 23.8 | 22.9 | No data |
Information on the three independent peaks detected in this study and exonic variants in linkage disequilibrium are presented.
*P-value for S2556C was calculated after conditional analysis.
†The odds ratio and P-value for S1653Kfs was not available (NA), because the variant was not included in the imputed genotypes of the GWAS analysis.