Table 1.
Variant | Chromosome 7q position (bp)* | Reference genotype | CEVA genotype | Minor allele frequency† | CADD score‡ |
---|---|---|---|---|---|
rs17424561 | 106669858 | G | A | 0.049 | 3.9 |
rs79579403 | 106741374 | T | C | 0.048 | 2.9 |
rs17425867 | 106764419 | T | A | 0.048 | 11.7 |
rs117113959 | 106815154 | T | C | 0.047 | 0.1 |
rs17349280 | 106837681 | G | A | 0.047 | 2.2 |
rs117386523 | 106930234 | C | T | 0.047 | 13.5 |
rs80149210 | 106967931 | A | G | 0.047 | 1.6 |
rs199667576 | 106993159 | T | – | 0.046 | 5.9 |
rs9649298 | 107014419 | A | G | 0.046 | 13.7 |
rs117714350 | 107147622 | T | C | 0.035 | 7.8 |
rs199915614 | 107242636 | T | – | 0.035 | 21.6 |
rs150942317 | 107282469 | A | C | 0.035 | 10.4 |
Based on hg19.
From European populations in 1000 Genomes phase 3.
CADD scaled C-scores for predicted deleteriousness. Larger scores are more strongly predictive of deleteriousness. CADD, Combined Annotation Dependent Depletion; CEVA, Caucasian enlargement of the vestibular aqueduct.