Table 1 Shared selected pleotropic loci for single nucleotide polymorphisms (SNPs) associated with birth weight.
From: Genetic causal inference between amblyopia and perinatal factors
Chr | Pos (bp) | SNP | Function | Gene | Mapped phenotypes/eQTL |
|---|---|---|---|---|---|
1p36.22 | 11,326,788 | rs1074078 | Intergenic | MTOR;UBIAD1 | CKD, ALS, tumor, brain, artery, nerve, skin |
1q44 | 244,460,590 | rs74226445 | Intergenic | ZBTB18;C1orf100 | Unknown |
22q13.1 | 39,619,814 | rs56031201 | UTR3 | PDGFB | Unknown |
2q14.2 | 120,262,615 | rs35991747 | Intronic | SCTR | Thyroid, pancreas |
2q24.1 | 156,753,946 | rs10202061 | Intergenic | KCNJ3;LINC01876 | Unknown |
2q24.2 | 163,444,009 | rs1385865 | Intronic | KCNH7 | Unknown |
5p14.1 | 24,913,167 | rs9283778 | Intergenic | LINC02239;LINC02228 | Thyroid, prostate testis |
5p15.2 | 13,462,423 | rs1348694 | Intergenic | LINC02220;DNAH5 | Unknown |
5q14.3 | 87,857,702 | rs116552258 | ncRNAintronic | LINC00461 | BMI, muscle, brain, esophagus |
5q31.3 | 144,172,786 | rs3906525 | Intergenic | KCTD16;PRELID2 | Unknown |
7q31.31 | 117,535,278 | rs6952555 | Intergenic | CTTNBP2;LSM8 | Fibroblast, lower leg skin |
8q21.13 | 83,474,560 | rs111654718 | Intergenic | SNX16;LOC101927141 | Unknown |
10p11.22 | 33,758,280 | rs151320013 | Intergenic | NRP1;LINC00838 | Unknown |
14q21.2 | 45,117,631 | rs8022105 | Intergenic | LOC105370473;LINC02302 | Unknown |
16p13.3 | 1,600,137 | rs2281228 | Intronic | IFT140;TMEM204 | Ciliopathies, artery, nerve, muscle, adipose cell, thyroid, brain |
17q25.3 | 76,255,778 | rs7218341 | Intergenic | LOC105371910;LINC01993 | Lung cancer |
18q21.2 | 51,265,020 | rs72930125 | Intergenic | LINC01919;MBD2 | Unknown |
19p13.3 | 1,852,494 | rs3746038 | UTR3 | KLF16 | BMI, MAP |
