Albertine Donker

IRIDA: a Heterogeneous Disease 187 4 TMPRSS6 High Frequency Variants and Single Tandem Repeats c.564C>T c.757A>G c.1083G>A c.1254C>T c.1563C>T c.2207C>T c.2217C>T Up Stream 18xGT a 139207981 2235324 2111833 881144 4820268 855791 2235321 0.006 c 0.354 0.343 0.075 d 0.583 0.588 0.385 - - +/- +/- +/- +/- - - + + + + + + 218 218 - - +/- +/- +/- +/- +/- +/- +/- +/- + + + + 218 218 - - + + + + - - + + + + + + 218 218 - - + + + + - - + + + + + + 218 218 - - + + - - - - + + + + + + 218 218 - - +/- +/- +/- +/- +/- +/- +/- +/- +/- +/- +/- +/- na na na na na na na na na na na na na na na na na na a Number in column indicates the length of the PCR fragments surrounding the Single Tandem Repeats b From http://www.ncbi.nlm.nih.gov/projects/SNP/snp.ref.cgi ; c No HAPMAP frequencies available, reference population ESP Cohort Population, http://www.ncbi.nlm. nih.gov/projects/SNP/snp+ref.cgi?rs=13920798 d No HAPMAP frequencies available, reference population ESP Cohort Population, http://www.ncbi.nlm. nih.gov/projects/SNP/snp+ref.cgi?rs=881144