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Table 2 Genotyping from Family 1 and Family 2 surrounding the VLDLR mutation suggests a common ~1,500,000 base pair haplotype inherited by affected individuals in both families, between base position chr9:2,212,796 and chr9:3,796,061

From: A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

RS Number or gene Base Position (chr 9, hg19) Reference Variant Control Family 1 Family 2
rs6474795 1399674 A T T/T T/T T/T
rs1412256 1464067 G C C/C G/G C/C
rs1535842 2212796 C T C/T T/T T/T
rs1331829 2382952 G T G/G G/G G/G
rs729367 2600253 T C T/C T/T T/T
VLDLRc.2117 G > T 2650382 G n/a G/G T/T T/T
rs1455175 3796061 G C C/C C/C C/C
rs4131424 4335668 G A G/A G/A G/G
rs7851353 4411383 A G A/G G/G G/G
rs913258 4877246 C G G/G C/C G/G