Table 2

Inherited variants and polymorphisms at 13q locus

GeneNCBI SNP IdSegregating allele frequencyIntron/exonMajor/minor allele
SPRY2rs50412225.0%ExonC/T
SPRY2rs1191138.0%3′UTRT/G
RNF219rs35712557N/AExonGA/--
LMO7rs799710145.0%CNCC/T
KLF12rs376413447.0%ExonC/A
POU4F1None*N/APromoterC/A
  • * The SNP identified was not listed in dbSNP (http://www.ncbi.nih.gov/SNP/); however, the sequence surrounding the SNP is as follows: GCCGTCCCGGGGAGCT(C/A)TCGCGAGAGCTCGCGGCCCCA at chromosome 13 position 78 075 760 (Human Mar. 2006 (hg18) assembly).

  • --, a 2 bp deletion; CNC, conserved non-coding; N/A, not available; SNP, single-nucleotide polymorphism; UTR, untranslated region.