Table 3. SNPs documented in cataract probands/affected relatives of Indian origin.
| Genes | Non coding | Family code | Coding | Family code |
|---|---|---|---|---|
|
CRYAA |
IVS2+27 g>c |
CBE21;DJC1 |
rs60485881 |
CBE21 |
|
CRYBB2 |
65843t>a;(IVS1+31t>a) |
JEE13 |
54 g>a; K18K |
DJC1 |
| |
65894a>g;(IVS1+84a>g) |
JEE13 |
rs17842553 |
SEC18 |
| |
71307c>a;IVS3+120c>a) |
DJC1; JPM1 |
|
|
| |
73644a>g;(IVS3–360a>g) |
JEE13;DJC1 |
|
|
| |
75738 g>a;(IVS5+9g>a) |
JEE13;DJC1 |
77788 g>a;G161G |
JEE13;DJC1 |
|
CRYGC |
none |
none |
rs3189020 |
Sec18 |
|
CRYGD |
517t>c; IVS2+30t>c |
CBE21;DJC1;JPM1; |
286t>c; Y16Y |
JPM1;DJC1; |
| |
|
JEE13 |
365a>g;M43V |
CBE21 |
| |
570c>t; IVS2+83t>c |
CBE21;DJC1;JPM1; |
285a>g;R94R |
CBE21 |
| |
|
JEE13 |
|
JEE13 |
| |
553c>t-3′UTR |
JEE13 |
|
|
|
GJA3 |
rs968566 |
SEC18 |
none |
none |
|
GJA8 |
none |
none |
none |
none |
|
PITX3 |
none |
none |
rs17858134 |
SEC18;CBE21 |
| HSF4 | IVS1+9 c>t | JEE13 | none | none |