SNP | Gene/Locus | Chromo-some | RAF in NPHSII | Genotype distribution | % Concordance (n) | ||
---|---|---|---|---|---|---|---|
Common homozygotes (n) | Heterozygotes (n) | Rare homozygotes (n) | |||||
rs11591147 | PCSK9 | 1 | 0.99 | 139 | 5 | 0 | 100 (144) |
rs17465637 | MIA3 | 1 | 0.71 | 84 | 68 | 6 | 98.7 (158) |
rs646776 | SORT1 | 1 | 0.78 | 95 | 69 | 8 | 100 (172) |
rs1042031 | APOB | 2 | 0.18 | 105 | 62 | 6 | 99.4 (173) |
rs9818870 | MRAS | 3 | 0.16 | 116 | 44 | 5 | 100 (165) |
rs3798220 | LPA | 6 | 0.02 | 166 | 7 | 0 | 100 (173) |
rs10455872 | LPA | 6 | 0.07 | 135 | 20 | 1 | 100 (156) |
rs1799983 | NOS3 | 7 | 0.33 | 68 | 79 | 24 | 100 (171) |
rs328 | LPL | 8 | 0.90 | 131 | 34 | 2 | 99.4 (167) |
rs1801177 | LPL | 8 | 0.01 | 162 | 5 | 0 | 100 (167) |
rs7025486 | DAB2IP | 9 | 0.26 | 94 | 69 | 10 | 100 (173) |
rs10757274 | 9p21 | 9 | 0.48 | 57 | 84 | 33 | 100 (174) |
rs1746048 | CXCL12 | 10 | 0.86 | 129 | 41 | 4 | 100 (174) |
rs662799 | APOA5 | 11 | 0.06 | 133 | 13 | 2 | 100 (148) |
rs17228212 | SMAD3 | 15 | 0.31 | 83 | 72 | 18 | 100 (173) |
rs708272 | CETP | 16 | 0.56 | 50 | 71 | 26 | 99.4 (158) |
rs4341 | ACE | 17 | 0.52 | 47 | 81 | 40 | 100 (168) |
rs7412 | APOE | 19 | 0.91 | 131 | 36 | 5 | 99.4 (172) |
rs429358 | APOE | 19 | 0.17 | 139 | 32 | 1 | 100 (172) |