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. Author manuscript; available in PMC: 2018 Apr 2.
Published in final edited form as: J Med Genet. 2017 Aug 5;54(10):665–673. doi: 10.1136/jmedgenet-2017-104721

Table 1.

SLC26A4-linked variants comprising the CEVA haplotype

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.