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
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 |