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. 2015 May 7;24(16):4483–4490. doi: 10.1093/hmg/ddv171

Table 1.

Exome variants in genes at the chromosome 19 locus based on hg19

Gene Variant Genomic site Type Validation
ABCA7 G>C 19:1056492 Non-synonymous rs3752246
AP3D1 T>C 19:2109157 Non-synonmous rs25673
BTBD2 A>G 19:1997363 Synonymous rs1610045
LMNB2 C>T 19:2438462 Non-synonmous c.469C>T (p.His157Tyr)
MUM1 G>A 19:1360575 Non-synonmous rs3826942
ZNF77 C>A 19:2934694 Non-synonmous rs76396690
POLRE2 C>T 19:1094004 Non-synonmous rs12459404
GRIN3B G>A 19:1003433 Non-synonmous rs367698479