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. 2021 Jan 29;4:140. doi: 10.1038/s42003-021-01662-9

Table 2.

Peaks detected with conditional analysis of the EYS locus and associated non-synonymous variants.

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.