Table 3 of Mimiwati, Mol Vis 2014; 20:714-723.


Table 3. Genotype and allele frequency for Asn480 Lys and IVS2 730+35G>A (rs2032555) between affected and non-affected probands.

MYOC variation JOAGn=32 Not affectedn=90 p-value*
Asn480Lsy
Genotype N (%) N (%)  
Asn480Asn 2 (6.3) 84 (93.3)  
Asn480Lys 25 (78.1) 6 (6.7) <0.001
Lys480Lys 5 (15.6) 0 (0.0)  
Allele frequency
C 0.45 0.97 <0.001
A 0.55 0.03  
IVS2 730+35G>A
Genotype N (%) N (%)  
GG 5 (15.6) 4 (4.4)  
GA 22(68.8) 23 (25.6) <0.001
AA 5 (15.6) 63 (70.0)  
Allele frequency
G 0.50 0.17 <0.001
A 0.50 0.83