Table 3. Discordant SNPs in MZ twin pairs of the Rotterdam Congenital anomaly cohort.
| Discordant SNPs | Chromosomal location (dbSNP build 130) (bp) | Gene symbols | |
|---|---|---|---|
| Pair EA | |||
| 1 | rs11573502 | chrX:24888693-24889193 | POLA1 |
| 2 | — | — | — |
| 3 | — | — | — |
| 4 | rs10125846 | chr9:2821641-2822141 | KIAA0020 |
| rs1744767 | chr20:35200380-35200880 | LOC140699 isoform 3 | |
| rs438895 | chr1:8260692-8261192 | ||
| 5 | — | — | — |
| 6 | — | — | — |
| 7 | rs1576026 | chr9:25,453,089-25,453,589 | — |
| Pair CDH | |||
| 1 | rs17730982 | chr8:134851934-134852434 | |
| rs2824374 | chr21:17879252-17879752 | CXADR; possible involvement | |
| Kidney and cochlear development25, 26 | |||
| 2 | — | — | — |
| 4 | rs6571064 | chr6:103400463-103400963 | — |
| 3 | Not evaluated; SNP quality rate <0.95 | — | — |
Abbreviations: bp, basepairs; EA, Esophageal Atresia; CDH, Congenital Diaphragmatic Hernia.