Skip to main content
. 2023 Nov 14;142(12):1747–1754. doi: 10.1007/s00439-023-02611-8

Table 1.

SNP-based haplotypes (15 kb) of the Sudanese family with MJD, compared with the main Joseph and Machado MJD mutational origins (refSNPs according to Genome Reference Consortium GRCh38.p14)

dbSNP ID refSNP (HGVS) Joseph lineage Machado lineage Sudanese family
rs12590497 NC_000014.9:g.92083288 C > A T G G
rs16999141 NC_000014.9:g.92083242 G > A T T T
rs10146519 NC_000014.9:g.92082552 A > C G T T
rs1048755 NC_000014.9:g.92082441 C > T A G G
rs12586535 NC_000014.9:g.92072185 G > A T C C
rs12586471 NC_000014.9:g.92072061 A > G C T T
rs56268847 NC_000014.9:g.92071824 T > C A A A
rs10467858 NC_000014.9:g.92071441 C > T A G G
rs10467857 NC_000014.9:g.92071399 G > C G G G
rs10467856 NC_000014.9:g.92071388 A > G C T T
(CAG)n
rs12895357 NC_000014.9:g.92071010 C > G C G G
rs7158733 NC_000014.9:g.92070879 G > T A C C
rs3092822 NC_000014.9:g.92070819 T > G C A A
rs7158238 NC_000014.9:g.92070761 C > T A G G
rs12588287 NC_000014.9:g.92070615 T > C G A A
rs7153615 NC_000014.9:g.92070595 C > T A G G
rs7153603 NC_000014.9:g.92070572 C > T A G G
rs7153696 NC_000014.9:g.92070452 G > A T C C
rs7153374 NC_000014.9:g.92070423 C > T A G G
rs7153193 NC_000014.9:g.92070350 C > A T G G
rs4904833 NC_000014.9:g.92069317 A > G C T T
rs7146985 NC_000014.9:g.92069172 G > A T C C
rs113572439 NC_000014.9:g.92069100 A > T A T T
rs2006047 NC_000014.9:g.92068664 T > C G G G
rs146668789 NC_000014.9:g.92068591 G > A C C C
rs8004149 NC_000014.9:g.92068571 C > T A G G
rs111735934 NC_000014.9:g.92068539 C > T G A A
rs181752420 NC_000014.9:g.92068435 G > A C C C
rs7142326 NC_000014.9:g.92068397 T > C G G G
rs74071847 NC_000014.9:g.92068329 G > A C C C