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Table 2 Individual variant-association test results (significance level P = 4.95 × 10−5)

From: Identification of sequence variants associated with severe microtia-astresia by targeted sequencing

SNP ID

Hg19 Location

Gene

Variant

rs number

P-value

Chr11

6,676,884

DCHS1

NM_003737:c.-14,040 T > C

rs12288387

1.85 × 10−48

Chr1

155,204,694

GBA

NM_001171811:c.*92G > A

rs144123706

1.04 × 10−36

  1. Notes: *indicates the mutation affects the stop codon. It makes the stop codon change to an amino acid encoded codon
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BMC Medical Genomics

ISSN: 1755-8794

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