Table 2.
Variant | Chr | Pos | Implicated gene | SNP location | Allelesa | Allele freq.b | OR | 95% CI | P value | Gene-associated disorders and phenotypes |
---|---|---|---|---|---|---|---|---|---|---|
rs6762267 | 3 | 85513115 | CADM2 N,E | Intronic | C/A | 0.38 | 1.049 | 1.041–1.058 | 6.60 × 10−31 | — |
rs727644 | 7 | 114109349 | FOXP2 N,E | Intronic | G/A | 0.60 | 1.031 | 1.023–1.040 | 4.00 × 10−14 | Speech and language disorder 1 |
rs62519827 | 8 | 65481947 | CYP7B1 E,M | Intergenic | T/C | 0.89 | 1.042 | 1.029–1.055 | 6.00 × 10−11 | Spastic paraplegia |
rs9841382 | 3 | 181408124 | SOX2-OT N | Intronic | C/T | 0.14 | 1.038 | 1.026–1.049 | 7.10 × 10−11 | CNS abnormalities; development delay |
rs58560561 | 1 | 243537729 | SDCCAG8 N,E | Intronic | G/T | 0.65 | 1.028 | 1.019–1.036 | 7.20 × 10−11 | Educational attainment; Bardet–Biedl syndrome |
rs992493 | 4 | 106180264 | TET2 N | Intronic | T/C | 0.19 | 1.033 | 1.023–1.043 | 2.50 × 10−10 | — |
rs6923811 | 6 | 27289776 | POM121L2 N | Intergenic | T/C | 0.68 | 1.027 | 1.019–1.036 | 3.90 × 10−10 | Autistic spectrum disorder |
rs7817124 | 8 | 81404008 | ZBTB10 N | Intronic | C/G | 0.24 | 1.030 | 1.020–1.039 | 6.10 × 10−10 | — |
rs4801000 | 18 | 53456943 | TCF4 N | Intergenic | G/A | 0.34 | 1.025 | 1.017–1.034 | 3.40 × 10−9 | Schizophrenia |
rs4653015 | 1 | 33776431 | ZNF362 E | Intergenic | T/C | 0.26 | 1.027 | 1.018–1.037 | 3.80 × 10−9 | — |
rs12476923 | 2 | 145830053 | DKFZp686O1327 N | Intronic | A/C | 0.34 | 1.025 | 1.017–1.034 | 4.70 × 10−9 | — |
rs283914 | 3 | 17330649 | TBC1D5 N,E | Intronic | T/C | 0.53 | 1.024 | 1.016–1.032 | 5.30 × 10−9 | Schizophrenia |
rs4233093 | 1 | 73446245 | NEGR1 N | Intergenic | A/G | 0.52 | 1.024 | 1.016–1.032 | 5.30 × 10−9 | Neuronal growth |
rs7829912 | 8 | 33479228 | DUSP26 N | Intergenic | T/C | 0.56 | 1.024 | 1.016–1.032 | 5.90 × 10−9 | — |
rs3117340 | 6 | 29210596 | OR14J1 N | Intergenic | G/T | 0.62 | 1.024 | 1.016–1.033 | 7.00 × 10−9 | Autistic spectrum disorder; sensory experience |
rs1381287 | 14 | 98597552 | RP11-61O1.1 N,E | Intergenic | T/C | 0.46 | 1.023 | 1.015–1.032 | 9.90 × 10−9 | — |
rs28520003 | 22 | 46411969 | LINC00899 E | Intergenic | G/A | 0.69 | 1.025 | 1.016–1.034 | 1.10 × 10−8 | — |
rs12115650 | 9 | 126367705 | DENND1A N | Intronic | G/A | 0.72 | 1.026 | 1.017–1.035 | 1.50 × 10−8 | — |
rs11226319 | 11 | 104221573 | PDGFD N | Intergenic | A/G | 0.16 | 1.032 | 1.021–1.043 | 1.50 × 10−8 | Neocortical development |
rs1358391 | 7 | 115111838 | SNORA25 N | Intergenic | G/T | 0.51 | 1.023 | 1.015–1.031 | 1.50 × 10−8 | — |
rs12617392 | 2 | 27336827 | CGREF1 N,E | Intronic | C/A | 0.56 | 1.023 | 1.015–1.031 | 1.80 × 10−8 | — |
rs542883 | 2 | 45143382 | SIX3 N,E | Intergenic | C/G | 0.56 | 1.023 | 1.015–1.031 | 2.20 × 10−8 | Holoprosencephaly |
rs10823791 | 10 | 73338334 | CDH23 N | Intronic | T/A | 0.40 | 1.023 | 1.015–1.031 | 3.60 × 10−8 | Usher syndrome; profound deafness |
rs34905321 | 6 | 109131107 | ARMC2 N | Intergenic | T/C | 0.57 | 1.022 | 1.014–1.031 | 3.90 × 10−8 | — |
rs891124 | 16 | 71440756 | CALB2 N | Intergenic | T/C | 0.71 | 1.024 | 1.016–1.033 | 4.10 × 10−8 | — |
rs35914833 | 14 | 94182383 | PRIMA1 N | Intergenic | T/C | 0.68 | 1.024 | 1.015–1.033 | 5.00 × 10−8 | — |
OR odds ratio, N nearest gene, E eQTL, M missense
a Effect allele/other allele
b Effect allele frequency