Table 6 Rare variants in the COL5A1 promoter in keratoconus patients with the rs1536482 minor allele/es
dbSNP identification number | Number of probands with variant | Sequence annotation | MAF ALFA European | Genotypes | Cosegregation analysis available | Number of cosegregation analyses | Segregation |
|---|---|---|---|---|---|---|---|
rs1043208782 | 1 | intron | T = 0.00132 | hetero-zygote | no | N/A | N/A |
rs569248712 | 1 | 5-UTR | A = 0.00399 | hetero-zygote | yes | 1 | yes |
rs548525119 | 3 | exon p.Pro21Ser | T = 0.00021 | 2 homo-zygotes/1 hetero-zygote | yes | 2 | 2 no |