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 | JOAG n=32 | Not affected n=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 |